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Kawasaki Disease
Mayo_clinic
Kawasaki disease was previously called mucocutaneous lymph node syndrome because it also causes swelling in glands (lymph nodes) and mucous membranes inside the mouth, nose, eyes and throat. ... Kawasaki disease can have symptoms similar to that of multisystem inflammatory syndrome in children, which has occurred worldwide in children with COVID-19. ... Diagnosis involves ruling out other diseases that cause similar signs and symptoms, including: Scarlet fever, which is caused by streptococcal bacteria and results in fever, rash, chills and sore throat Juvenile rheumatoid arthritis Stevens-Johnson syndrome, a disorder of the mucous membranes Toxic shock syndrome Measles Certain tick-borne illnesses, such as Rocky Mountain spotted fever The health care provider will do a physical examination and order blood and urine tests to help in the diagnosis. ... Aspirin has been linked to Reye's syndrome, a rare but potentially life-threatening condition, in children recovering from chickenpox or flu. ... Taking aspirin has been linked to Reye's syndrome, a rare but potentially life-threatening condition that can affect the blood, liver and brain of children and teenagers after a viral infection.FCGR2A, ITPKC, BLK, CD40, KCNN2, NEBL, MED30, MDGA1, ATP5MF, NAALADL2, FHAD1, TECRL, SLC35F5, ZSCAN25, CRP, CENPU, PTCD1, TNF, SGCD, MESP2, IL10, PREX1, LDLRAD3, ZNF618, IL6, IRF8, DAB1, ATP5MF-PTCD1, IL1A, IL1B, MIA, MIA-RAB4B, IL1RAP, FHAD1-AS1, BUD31, SETBP1, VEGFA, MMP9, IL18, CASP3, ALB, HLA-DRB1, IL4, IL1RN, ACE, PECAM1, IL17A, HSPD1, MIR223, ORAI1, SMAD3, IFNG, CCR5, MBL2, CD40LG, VCAM1, CD14, CD68, S100A9, NLRP3, RBM45, HMGB1, HAMP, HLA-B, HLA-C, CCL2, S100A12, GPT, CCL3L1, FCGR3B, FCGR2B, TNFRSF1A, CCR2, IL6ST, FOXP3, SEMA6A, HSPA14, GOPC, RETN, IL2RA, PTX3, MMP3, S100A8, ISG20, SLC11A1, SLC8A1, LTA, CCL5, MPO, SDC1, MEFV, IL2, MMP2, MIF, FBLIM1, IL1R1, TGFB2, CDR3, AIF1, TRIP10, VWF, CSF3, ABCC4, CYP2C9, NOD1, ESR1, FCN1, FLT1, TIMP2, LINC01194, TGFBR2, MIR145, HMOX1, TGFB1, HLA-A, HLA-DQA1, COPB2, CD209, IL22, CCL4L2, AIM2, STOML1, AMACR, KLRK1, POT1, SPATA2, MAP7, SPAG9, NMNAT2, PLCB1, SUCO, SOCS3, IL23A, ADA2, FCMR, PYCARD, WDR1, ATP6AP2, UTS2, HCP5, TNFSF13B, LILRB4, ADAMTS13, POSTN, GCA, ANP32B, FGF21, PHLPP1, SP140, TLR6, NLRP1, IL17D, TRBV6-5, ABO, ABCC11, TET2, MIR155, MIR222, MIR21, MIR200C, MIR186, MIR183, MIR182, MIR146A, LCE3B, MIR134, MIR125A, MIRLET7I, CCL4L1, IL31, PEAR1, MIR27A, MIR27B, MIR31, MIR320A, MIR371A, WG, TIFAB, MIR483, BRD7P2, MIR671, KIR2DS2, CD24, AD12, RPL17-C18orf32, KLRC4-KLRK1, MIR4515, MTCO2P12, LCE3C, NLRP14, PBK, CLEC7A, GGCT, VKORC1, WNK1, P2RY12, GORASP1, EBF2, CDH22, OR10A4, IL21, NLRC4, PELI1, CD177, BTNL2, MYDGF, NLRX1, GSDMD, ULBP1, ZBP1, SYTL1, CD84, NLRP12, CLEC6A, SFXN1, C1QTNF1, GRIN3A, LRG1, TPH2, HT, SAMD9L, IL27, CERS6, NR1I2, TAC1, TNFSF13, SMAD7, HP, HLA-G, HLA-E, HLA-DQB2, HLA-DPB1, HLA-DOB, HLA-DOA, HIF1A, HGF, GZMB, CXCL2, NR3C1, GLS, GLB1, KAT2A, HSD11B2, HSPA5, TNC, KDR, SMAD5, SMAD1, LDHA, KLRC1, KIR3DL2, KIR2DL2, ITPR3, ICAM1, INSR, IL15, IL12B, CXCL8, IL7, IGF1R, GATA3, GAPDH, FUT1, ANGPT1, CACNB2, VPS51, STS, AQP1, APOB, ANGPT2, AKT1, CAT, AGTR1, AGT, JAG1, AGER, ADM, ADA, CASP4, SEPTIN7, VEGFD, CYP2E1, FCER2, BPTF, ERBB2, EPHB2, ELN, ELAVL2, CTNNB1, CEACAM5, CTLA4, CCN2, MAPK14, COL11A2, CCR3, CHI3L1, SMAD6, MICB, BECN1, MMP11, TIMP4, TIMP1, THBD, TFRC, TRBV20OR9-2, ZEB1, TBXA2R, ACHE, SYT1, ABCC8, SULT1A1, STAT1, SRC, SNCA, SIX1, TLR1, TLR2, TLR4, VEGFC, NCOA1, FGF23, PLA2G7, ABHD16A, PRRC2A, SEMA3B, VDR, TNFAIP3, UCP2, TYK2, TNFRSF4, TNFSF4, TUBA3C, TP53, ST6GAL1, SELP, SELE, NGF, SERPINE1, OTX2, OLR1, NR4A2, NOTCH4, NOS2, NFATC2, PDE2A, NFATC1, NCAM1, MYO5B, COX2, MMP13, MMP12, PDCD1, PGK1, CCL17, PTGS2, CCL4, SCN3A, SAG, RPL17, RELA, NECTIN1, MAP2K7, SERPINA1, MAPK3, MAPK1, PRF1, PPARG, PPARD, PLCB4, LINC02605
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Hypertryptophanemia
Wikipedia
You can help by adding to it . ( July 2017 ) See also [ edit ] Blue diaper syndrome Tryptamine Serotonin References [ edit ] ^ a b c d e Online Mendelian Inheritance in Man (OMIM): 600627 ^ a b c d e f g h i Martin JR, Mellor CS, Fraser FC (April 1995). ... External links [ edit ] Classification D ICD - 10 : E70.8 ICD - 9-CM : 270.2 OMIM : 600627 MeSH : C538393 External resources Orphanet : 2224 v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria
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Mitral Valve Prolapse 1
Omim
Thus, MVP is associated with coronary artery disease, congestive or hypertrophic cardiomyopathy, atrial septal defect, papillary muscle or chorda tendinea rupture, and various heritable disorders of connective tissue (Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta). ... Many such persons have chest pain, dyspnea, thoracic cage deformity (Bon Tempo et al., 1975; Salomon et al., 1975), dysrhythmia (Gooch et al., 1972), and distinctive anthropomorphic characteristics (Schutte et al., 1981) which suggest a syndrome. In some cases, a modicum of loose-jointedness may suggest a mild form of the Ehlers-Danlos syndrome. ... Except for anthropomorphic characteristics of narrower A-P chest diameter and longer arm spans than controls (Schutte et al., 1981), none of the other associated (perhaps pleiotropic) features of MVP syndrome have been demonstrated to follow dominant inheritance. ... No prospective, unbiased study of natural history has been performed, but prognosis in idiopathic MVP appears to be far better than for MVP in the Marfan syndrome, in which over 12% of patients developed progressive severe mitral regurgitation by age 22 years (Pyeritz and Woppel, 1982).
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Respiratory Failure
Wikipedia
The underlying causes include: Increased airways resistance ( chronic obstructive pulmonary disease , asthma , suffocation) Reduced breathing effort (drug effects, brain stem lesion, extreme obesity) A decrease in the area of the lung available for gas exchange (such as in chronic bronchitis ) Neuromuscular problems ( Guillain–Barré syndrome , [3] motor neuron disease ) Deformed (kyphoscoliosis), rigid ( ankylosing spondylitis ), or flail chest . [3] Types 3 and 4 - [4] [5] [6] Treatment [ edit ] Mechanical ventilator Treatment of the underlying cause is required, if possible. ... External links [ edit ] MedlinePlus: Respiratory Failure Classification D ICD - 10 : J96 ICD - 9-CM : 518.81 MeSH : D012131 DiseasesDB : 6623 SNOMED CT : 409622000 External resources eMedicine : med/2011 v t e Diseases of the respiratory system Upper RT (including URTIs , common cold ) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT / lung disease (including LRTIs ) Bronchial / obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD ) Asthma ( Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial / restrictive ( fibrosis ) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other ARDS Combined pulmonary fibrosis and emphysema Pulmonary edema Löffler's syndrome / Eosinophilic pneumonia Respiratory hypersensitivity Allergic bronchopulmonary aspergillosis Hamman-Rich syndrome Idiopathic pulmonary fibrosis Sarcoidosis Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia / pneumonitis By pathogen Viral Bacterial Pneumococcal Klebsiella Atypical bacterial Mycoplasma Legionnaires' disease Chlamydiae Fungal Pneumocystis Parasitic noninfectious Chemical / Mendelson's syndrome Aspiration / Lipid By vector/route Community-acquired Healthcare-associated Hospital-acquired By distribution Broncho- Lobar IIP UIP DIP BOOP-COP NSIP RB Other Atelectasis circulatory Pulmonary hypertension Pulmonary embolism Lung abscess Pleural cavity / mediastinum Pleural disease Pleuritis/pleurisy Pneumothorax / Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease Mediastinitis Mediastinal emphysema Other/general Respiratory failure Influenza Common cold SARS Coronavirus disease 2019 Idiopathic pulmonary haemosiderosis Pulmonary alveolar proteinosis v t e Organ failure General Heart failure Respiratory failure Liver failure Acute Chronic Renal failure Acute Chronic Encephalopathy Multiple Multiple organ dysfunction syndromeMECP2, MGME1, TBCD, IGF1R, CACNA1S, IFT80, FBLN5, SLC23A1, TRH, PLAT, PDYN, OPRM1, MAPT, SFTPB, ABCA3, SMN1, SMN2, DMD, NKX2-1, IGHMBP2, TTN, FUS, FLNA, MEGF10, SOD1, SARS2, SCO2, ACTA1, CRYAB, SCN4A, TARDBP, DCTN1, BCHE, HRAS, NAXE, LAMC2, TK2, MYOT, LAMA2, GLE1, NDUFS4, ANG, NOTCH2, ORC1, NEK1, ORC4, FAM20C, NEFH, MTM1, NDUFS2, SQSTM1, NEB, NBN, MUSK, SUCLG1, TRPV4, BSCL2, ANXA11, SH2D1A, LTBP3, LRP4, LAMB3, LAMA3, INPP5E, NDUFB8, PEX6, SURF1, NFU1, GMNN, ASCC1, SLC6A9, UBQLN2, POMT2, SON, GMPPB, PFN1, AHCY, VCP, TBK1, HTRA2, IFT81, TPM3, OSTM1, SDHA, TREM2, ATXN2, ATXN1, LMOD3, CDC45, VAPB, GLT8D1, PON1, PON2, PON3, TMEM70, PRPH, PSAP, RAPSN, RYR1, INVS, TAF15, NDUFB11, LARGE1, CHMP2B, CTSD, CHRNB1, CHRNE, COL6A1, COL6A2, COL6A3, COL12A1, COL13A1, TSEN54, COX7B, COX10, COX15, CPT2, COPD, AK9, FKRP, DAG1, CHRND, CHRNA1, C9orf72, UNC80, BCS1L, PPARGC1A, RNU4ATAC, STAG2, CFAP410, EXOSC8, UNC13A, POMT1, CHCHD10, BOLA3, CCNF, AGRN, NPC2, CDC6, DOK7, DAO, TUFM, IBA57, ORC6, LYRM7, UBE3B, HADHA, HADHB, HCCS, ATAD1, HNRNPA1, NDUFAF2, CDT1, FIG4, CLPB, SLC2A10, MATR3, NDUFAF3, ACVR1, GLS, KLHL40, KLHL41, AGTPBP1, TSFM, EPHA4, ERBB3, OPTN, ERBB4, SLC25A26, MICOS13, RNF168, BICD2, GATA2, SFTPC, SELENON, CFTR, MGAM, CSF2, SI, CHAT, ALB, CXCL8, SNURF, VAV1, SNRPN, IGFALS, ACHE, STMN1, FOXF1, EGFR, UCN3, CD40LG, ALK, CALCA, TTF1, THBD, HMGB1, TNF, RN7SL263P, IFIH1, MARCHF10, HPS4, LAMTOR2, ASXL1, ACCS, MIR127, SFTPA1, MUC5B, FSTL1, TNRC6B, SPSB1, SNX27, PLA2G15, EML4, HIPK2, SF3B6, FEV, TRPM4, ACSS2, DEPP1, GREM1, TNRC6C, PIEZO2, NABP2, PTPN22, LRIT1, SLC52A2, SHCBP1, RPP14, ATOH1, SUB1, ANGPT1, FN1, GAA, GCG, GPT, GPX4, GSN, HMGA1, HMOX1, HOXA5, NDST1, IFNA1, IFNA13, ARSA, IL1RN, IL3, IL5, IL6, ITGAM, ITGB2, FLNC, FOXM1, FOXC2, CDKN2A, BDNF, BMI1, MYRF, ARSL, CAMP, CAPN3, RUNX2, CD19, CEBPG, FGF2, COMP, CRP, CSF1R, ACE, DES, ELN, FBN1, FGF1, MBL2, MUC1, HPSE, MYOG, TTR, UCHL1, SCGB1A1, VRK1, COLQ, ZPR1, PHOX2B, PPIG, TBX4, BAG3, PHF14, PPP6R2, UBAP2L, ADM, CDK2AP2, WFDC2, CXCL13, TXNRD2, PDPN, ADRB2, TPM2, TM7SF2, S100A9, NFE2L2, PAEP, PAM, EXOSC9, POLB, POMC, POR, PREP, S100B, TLR4, SARS1, SDC1, SELE, ACADVL, SFTPD, SLC18A3, SOD2, TAC1, H3P8
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Golfer's Elbow
Wikipedia
Few subjects will need to progress to steroid injection, and less than 10% will require surgical intervention. [8] Arthroscopy is not an option for treating golfer's elbow. [7] See also [ edit ] Tennis elbow Repetitive strain injury Radial tunnel syndrome References [ edit ] ^ "Pitcher's Elbow - Stanford Sports Medicine - Stanford Medical Outpatient Center" . ... External links [ edit ] Classification D ICD - 10 : M77.0 ICD - 9-CM : 726.31 DiseasesDB : 5356 External resources eMedicine : sports/74 pmr/74 v t e Soft tissue disorders Capsular joint Synoviopathy Synovitis / Tenosynovitis Calcific tendinitis Stenosing tenosynovitis Trigger finger De Quervain syndrome Transient synovitis Ganglion cyst osteochondromatosis Synovial osteochondromatosis Plica syndrome villonodular synovitis Giant-cell tumor of the tendon sheath Bursopathy Bursitis Olecranon Prepatellar Trochanteric Subacromial Achilles Retrocalcaneal Ischial Iliopsoas Synovial cyst Baker's cyst Calcific bursitis Noncapsular joint Symptoms Ligamentous laxity Hypermobility Enthesopathy / Enthesitis / Tendinopathy upper limb Adhesive capsulitis of shoulder Impingement syndrome Rotator cuff tear Golfer's elbow Tennis elbow lower limb Iliotibial band syndrome Patellar tendinitis Achilles tendinitis Calcaneal spur Metatarsalgia Bone spur other/general: Tendinitis / Tendinosis Nonjoint Fasciopathy Fasciitis : Plantar Nodular Necrotizing Eosinophilic Fibromatosis / contracture Dupuytren's contracture Plantar fibromatosis Aggressive fibromatosis Knuckle pads v t e Occupational safety and health Occupational diseases and injuries Acrodynia Asbestosis Asthma Barotrauma Berylliosis Brucellosis Byssinosis ("brown lung") Chalicosis Chimney sweeps' carcinoma Chronic solvent-induced encephalopathy Coalworker's pneumoconiosis ("black lung") Concussions in sport Decompression sickness De Quervain syndrome Erethism Exposure to human nail dust Farmer's lung Fiddler's neck Flock worker's lung Glassblower's cataract Golfer's elbow Hearing loss Hospital-acquired infection Indium lung Laboratory animal allergy Lead poisoning Mesothelioma Metal fume fever Mule spinners' cancer Noise-induced hearing loss Phossy jaw Pneumoconiosis Radium jaw Repetitive strain injury Silicosis Silo-filler's disease Sports injury Surfer's ear Tennis elbow Tinnitus Writer's cramp Occupational hygiene Occupational hazard Biological hazard Chemical hazard Physical hazard Psychosocial hazard Hierarchy of hazard controls Prevention through design Exposure assessment Occupational exposure limit Occupational epidemiology Workplace health surveillance Professions Environmental health Industrial engineering Occupational health nursing Occupational health psychology Occupational medicine Occupational therapist Safety engineering Agencies and organizations Canadian Centre for Occupational Health and Safety European Agency for Safety and Health at Work UK Health and Safety Executive International Labour Organization US National Institute for Occupational Safety and Health US Occupational Safety and Health Administration National Institute for Safety and Health at Work (Spain) World Health Organization Standards Bangladesh Accord ISO 45001 Occupational Safety and Health Convention, 1981 Worker Protection Standard (US) Working Environment Convention, 1977 Safety Checklist Code of practice Contingency plan Diving safety Emergency procedure Emergency evacuation Hazard Hierarchy of hazard controls Hazard elimination Administrative controls Engineering controls Hazard substitution Personal protective equipment Job safety analysis Lockout-tagout Permit To Work Operations manual Redundancy (engineering) Risk assessment Safety culture Standard operating procedure Legislation Diving regulations Occupational Safety and Health Act (United States) See also Environment, health and safety Environmental toxicology Ergonomics Health physics Indoor air quality International Chemical Safety Card National Day of Mourning (Canadian observance) Process safety management Public health Risk management Safety data sheet Toxic tort Workers' compensation Category Occupational diseases Journals Organizations Commons Glossary
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Xanthogranulomatous Inflammation
Wikipedia
Retrieved 31 August 2015 . v t e Adrenal gland disorder Hyperfunction Aldosterone Hyperaldosteronism Primary aldosteronism Conn syndrome Bartter syndrome Glucocorticoid remediable aldosteronism AME Liddle's syndrome 17α CAH Pseudohypoaldosteronism Cortisol Cushing's syndrome Pseudo-Cushing's syndrome Steroid-induced osteoporosis Sex hormones 21α CAH 11β CAH Hypofunction Aldosterone Hypoaldosteronism 21α CAH 11β CAH Cortisol CAH Lipoid 3β 11β 17α 21α Sex hormones 17α CAH Inborn errors of steroid metabolism Adrenal insufficiency Adrenal crisis Adrenalitis Xanthogranulomatous Addison's disease Waterhouse–Friderichsen syndrome
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Knee Dislocation
Wikipedia
Knee dislocation Plain lateral X-ray of the left knee showing a posterior knee dislocation [1] Specialty Orthopedic surgery Symptoms Knee pain , knee deformity [2] Complications Injury to the artery behind the knee , compartment syndrome [3] [4] Types Anterior, posterior, lateral, medial, rotatory [4] Causes Trauma [3] Diagnostic method Based on history of the injury and physical examination , supported by medical imaging [5] [2] Differential diagnosis Femur fracture , tibial fracture , patellar dislocation , ACL tear [6] Treatment Reduction , splinting , surgery [4] Prognosis 10% risk of amputation [4] Frequency 1 per 100,000 per year [3] A knee dislocation is a knee injury in which there is a complete disruption of the joint between the tibia and the femur . [3] [4] Symptoms include knee pain and instability of the knee. [2] Complications may include injury to an artery around the knee, most commonly the artery behind the knee , or compartment syndrome . [3] [4] [7] About half of cases are the result of major trauma and about half occur as a result of minor trauma. [3] In about half of cases the joint reduces itself before a person arrives at the hospital. [3] Typically there is a break of the anterior cruciate ligament , posterior cruciate ligament , and either the medial collateral ligament or lateral collateral ligament . [3] If the ankle–brachial pressure index is less than 0.9, CT angiography is recommended to detect blood vessel injury. [3] Otherwise repeated physical exams may be sufficient. [2] If the joint remains dislocated, reduction and splinting is indicated; [4] this is typically carried out under procedural sedation . [2] In those with signs of arterial injury, immediate surgery is generally carried out. [3] Multiple surgeries may be required. [4] In just over 10% of cases, an amputation of part of the leg is required. [4] Knee dislocations are rare, occurring in about 1 per 100,000 people per year. [3] Males are more often affected than females. [2] Younger adults are most often affected. [2] Descriptions of this injury date back to at least 20 BC by Meges of Sidon . [8] Contents 1 Signs and symptoms 1.1 Complications 2 Cause 3 Diagnosis 3.1 Classification 4 Treatment 5 Epidemiology 6 References Signs and symptoms [ edit ] CT angiogram 3D reconstruction, posterior view showing a normal artery on the left, and occlusion to right popliteal artery as a result of a knee dislocation [9] Symptoms include knee pain . [2] The joint may also be obviously out of place. [2] A joint effusion is not always present. [2] Complications [ edit ] Complications may include injury to the artery behind the knee in about 20% of cases or compartment syndrome . [3] [4] Damage to the common peroneal nerve or tibial nerve may also occur. [2] Nerve problems if they occur often never fully heal. [10] Cause [ edit ] About half are the result of major trauma and about half occur as a result of minor trauma. [3] Major trauma may include mechanisms like falls from a significant height, motor vehicle collisions , or a pedestrian being hit by a motor vehicle. [2] Cases due to major trauma often have other injuries. [5] Minor trauma may include tripping while walking or while playing sports. [2] Risk factors include obesity . [2] The condition may also occur in a number of genetic disorders such as Ellis–van Creveld syndrome , Larsen syndrome , and Ehlers–Danlos syndrome . [11] Diagnosis [ edit ] A Segond fracture seen on X-ray As the injury may reduce on its own before a person arrives at the hospital, the diagnosis may be missed. [2] Diagnosis may be suspected based on the history of the injury and a physical examination . [5] This may include anterior drawer test , valgus stress test , varus stress test , and posterior sag test . [5] An accurate physical exam can be difficult due to pain. [5] Plain X-rays, CT scan, ultrasonography , or MRI may help with the diagnosis. [2] [10] Findings on X-ray that may be useful among those who have already reduced include a variable joint space, subluxation of the joint, or a Segond fracture . [5] If the ankle–brachial pressure index (ABI) is less than 0.9, CT angiography is recommended. [3] Standard angiography may also be used. [2] If the ABI is greater than 0.9 repeated physical exams over the next 24 hours to verify good blood flow may be sufficient. [2] [10] The ABI is calculated by taking the systolic blood pressure at the ankle and dividing it by the systolic blood pressure in the arm. [2] Classification [ edit ] A lateral dislocation of the knee They may be divided into five types: anterior, posterior, lateral, medial, and rotatory. [4] This classification is based on the movement of the tibia with respect to the femur. [10] Anterior dislocations are the most common, followed by posterior dislocations. [2] They may also be classified based on what ligaments are damaged. [2] Treatment [ edit ] Initial management is often based on Advanced Trauma Life Support . [5] If the joint remains dislocated reduction and splinting is indicated. [4] Reduction can often be done with simple traction after the person has received procedural sedation . [10] If the joint cannot be reduced in the emergency department emergency surgery is recommended. [2] In those with signs of arterial injury immediate surgery is generally carried out. [3] If the joint does not stay reduced external fixation may be needed. [2] If the nerves and artery are intact the ligaments may be repaired after a few days. [10] Multiple surgeries may be required. [4] In just over 10% of cases an amputation of part of the leg is required. [4] Epidemiology [ edit ] Knee dislocations are rare: they represent about 1 in 5,000 orthopedic injuries, [5] and about 1 knee dislocation occurs annually per 100,000 people. [3] Males are more often affected than females, and young adults are most often affected. [2] References [ edit ] ^ Duprey K, Lin M (February 2010).
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Pulmonary Aspiration
Wikipedia
See also [ edit ] Drowning Mendelson's syndrome Salt water aspiration syndrome Choking Pharyngeal aspiration References [ edit ] ^ Vos, Theo; Barber, Ryan M; Bell, Brad; Bertozzi-Villa, Amelia; Biryukov, Stan; Bolliger, Ian; Charlson, Fiona; Davis, Adrian; Degenhardt, Louisa; Dicker, Daniel; Duan, Leilei; Erskine, Holly; Feigin, Valery L; Ferrari, Alize J; Fitzmaurice, Christina; Fleming, Thomas; Graetz, Nicholas; Guinovart, Caterina; Haagsma, Juanita; Hansen, Gillian M; Hanson, Sarah Wulf; Heuton, Kyle R; Higashi, Hideki; Kassebaum, Nicholas; Kyu, Hmwe; Laurie, Evan; Liang, Xiofeng; Lofgren, Katherine; Lozano, Rafael; et al. (2015). ... External links [ edit ] Classification D ICD - 10 : J69 , J95.4 O29.0 , O74.0 O89.0 , P24 T17.3 – T17.9 W78 – W80 ICD - 9-CM : 668.0 , 997.3 MeSH : D053120 DiseasesDB : 979 Atlas of Pathology v t e Diseases of the respiratory system Upper RT (including URTIs , common cold ) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT / lung disease (including LRTIs ) Bronchial / obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD ) Asthma ( Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial / restrictive ( fibrosis ) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other ARDS Combined pulmonary fibrosis and emphysema Pulmonary edema Löffler's syndrome / Eosinophilic pneumonia Respiratory hypersensitivity Allergic bronchopulmonary aspergillosis Hamman-Rich syndrome Idiopathic pulmonary fibrosis Sarcoidosis Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia / pneumonitis By pathogen Viral Bacterial Pneumococcal Klebsiella Atypical bacterial Mycoplasma Legionnaires' disease Chlamydiae Fungal Pneumocystis Parasitic noninfectious Chemical / Mendelson's syndrome Aspiration / Lipid By vector/route Community-acquired Healthcare-associated Hospital-acquired By distribution Broncho- Lobar IIP UIP DIP BOOP-COP NSIP RB Other Atelectasis circulatory Pulmonary hypertension Pulmonary embolism Lung abscess Pleural cavity / mediastinum Pleural disease Pleuritis/pleurisy Pneumothorax / Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease Mediastinitis Mediastinal emphysema Other/general Respiratory failure Influenza Common cold SARS Coronavirus disease 2019 Idiopathic pulmonary haemosiderosis Pulmonary alveolar proteinosis
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Adenovirus Infection
Wikipedia
Symptoms of respiratory illness caused by adenovirus infection range from the common cold syndrome to pneumonia , croup , and bronchitis . ... Deaths are exceedingly rare but have been reported. [11] Prognosis [ edit ] Adenovirus can cause severe necrotizing pneumonia in which all or part of a lung has increased translucency radiographically, which is called Swyer-James Syndrome . [12] Severe adenovirus pneumonia also may result in bronchiolitis obliterans , a subacute inflammatory process in which the small airways are replaced by scar tissue , resulting in a reduction in lung volume and lung compliance . [12] References [ edit ] ^ Wadell G.; et al. (1987). ... External links [ edit ] Centers for Disease Control and Prevention--National Center for Infectious Diseases—Division of Viral and Rickettsial Diseases , Respiratory and Enteric Viruses Branch Classification D ICD - 10 : B97.0 MeSH : D000257 v t e Infectious diseases – viral systemic diseases Oncovirus DNA virus HBV Hepatocellular carcinoma HPV Cervical cancer Anal cancer Penile cancer Vulvar cancer Vaginal cancer Oropharyngeal cancer KSHV Kaposi's sarcoma EBV Nasopharyngeal carcinoma Burkitt's lymphoma Hodgkin lymphoma Follicular dendritic cell sarcoma Extranodal NK/T-cell lymphoma, nasal type MCPyV Merkel-cell carcinoma RNA virus HCV Hepatocellular carcinoma Splenic marginal zone lymphoma HTLV-I Adult T-cell leukemia/lymphoma Immune disorders HIV AIDS Central nervous system Encephalitis / meningitis DNA virus Human polyomavirus 2 Progressive multifocal leukoencephalopathy RNA virus MeV Subacute sclerosing panencephalitis LCV Lymphocytic choriomeningitis Arbovirus encephalitis Orthomyxoviridae (probable) Encephalitis lethargica RV Rabies Chandipura vesiculovirus Herpesviral meningitis Ramsay Hunt syndrome type 2 Myelitis Poliovirus Poliomyelitis Post-polio syndrome HTLV-I Tropical spastic paraparesis Eye Cytomegalovirus Cytomegalovirus retinitis HSV Herpes of the eye Cardiovascular CBV Pericarditis Myocarditis Respiratory system / acute viral nasopharyngitis / viral pneumonia DNA virus Epstein–Barr virus EBV infection / Infectious mononucleosis Cytomegalovirus RNA virus IV : Human coronavirus 229E / NL63 / HKU1 / OC43 Common cold MERS coronavirus Middle East respiratory syndrome SARS coronavirus Severe acute respiratory syndrome SARS coronavirus 2 Coronavirus disease 2019 V , Orthomyxoviridae : Influenza virus A / B / C / D Influenza / Avian influenza V, Paramyxoviridae : Human parainfluenza viruses Parainfluenza Human orthopneumovirus hMPV Human digestive system Pharynx / Esophagus MuV Mumps Cytomegalovirus Cytomegalovirus esophagitis Gastroenteritis / diarrhea DNA virus Adenovirus Adenovirus infection RNA virus Rotavirus Norovirus Astrovirus Coronavirus Hepatitis DNA virus HBV ( B ) RNA virus CBV HAV ( A ) HCV ( C ) HDV ( D ) HEV ( E ) HGV ( G ) Pancreatitis CBV Urogenital BK virus MuV Mumps
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Ochronosis
Wikipedia
Find sources: "Ochronosis" – news · newspapers · books · scholar · JSTOR ( December 2007 ) ( Learn how and when to remove this template message ) Ochronosis Homogentisic acid Specialty Endocrinology Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues . ... Dermatologic Surgery , 30: 555–558. doi : 10.1111/j.1524-4725.2004.30177.x External links [ edit ] Classification D ICD - 10 : E70.2 ( ILDS E70.230) ICD - 9-CM : 270.2 MeSH : D009794 DiseasesDB : 409 External resources eMedicine : derm/476 v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria
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Monckeberg's Arteriosclerosis
Wikipedia
You can help by adding to it . ( October 2019 ) Epidemiology [ edit ] The prevalence of Mönckeberg's arteriosclerosis increases with age and is more frequent in diabetes mellitus, chronic kidney disease, systemic lupus erythematosus , chronic inflammatory conditions, hypervitaminosis D and rare genetic disorders, such as Keutel syndrome . [2] The prevalence of Mönckeberg's arteriosclerosis in the general population has been estimated as <1% on the basis of an ankle brachial pressure index >1.5; [15] [16] [17] however the validity of this criterion is questionable. [17] References [ edit ] ^ " Mönckeberg arteriosclerosis " at Dorland's Medical Dictionary ^ a b c d e Micheletti RG, Fishbein GA, Currier JS, Singer EJ, Fishbein MC (August 2008). ... External links [ edit ] Classification D ICD - 10 : I70.2 ICD - 9-CM : 440.20 MeSH : D050380 v t e Cardiovascular disease (vessels) Arteries , arterioles and capillaries Inflammation Arteritis Aortitis Buerger's disease Peripheral artery disease Arteriosclerosis Atherosclerosis Foam cell Fatty streak Atheroma Intermittent claudication Critical limb ischemia Monckeberg's arteriosclerosis Arteriolosclerosis Hyaline Hyperplastic Cholesterol LDL Oxycholesterol Trans fat Stenosis Carotid artery stenosis Renal artery stenosis Other Aortoiliac occlusive disease Degos disease Erythromelalgia Fibromuscular dysplasia Raynaud's phenomenon Aneurysm / dissection / pseudoaneurysm torso : Aortic aneurysm Abdominal aortic aneurysm Thoracic aortic aneurysm Aneurysm of sinus of Valsalva Aortic dissection Aortic rupture Coronary artery aneurysm head / neck Intracranial aneurysm Intracranial berry aneurysm Carotid artery dissection Vertebral artery dissection Familial aortic dissection Vascular malformation Arteriovenous fistula Arteriovenous malformation Telangiectasia Hereditary hemorrhagic telangiectasia Vascular nevus Cherry hemangioma Halo nevus Spider angioma Veins Inflammation Phlebitis Venous thrombosis / Thrombophlebitis primarily lower limb Deep vein thrombosis abdomen Hepatic veno-occlusive disease Budd–Chiari syndrome May–Thurner syndrome Portal vein thrombosis Renal vein thrombosis upper limb / torso Mondor's disease Paget–Schroetter disease head Cerebral venous sinus thrombosis Post-thrombotic syndrome Varicose veins Gastric varices Portacaval anastomosis Caput medusae Esophageal varices Hemorrhoid Varicocele Other Chronic venous insufficiency Chronic cerebrospinal venous insufficiency Superior vena cava syndrome Inferior vena cava syndrome Venous ulcer Arteries or veins Angiopathy Macroangiopathy Microangiopathy Embolism Pulmonary embolism Cholesterol embolism Paradoxical embolism Thrombosis Vasculitis Blood pressure Hypertension Hypertensive heart disease Hypertensive emergency Hypertensive nephropathy Essential hypertension Secondary hypertension Renovascular hypertension Benign hypertension Pulmonary hypertension Systolic hypertension White coat hypertension Hypotension Orthostatic hypotension
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Hyperekplexia 1
Omim
Hyperekplexia can also occur in early infantile epileptic encephalopathy-8 (EIEE8; 300607), caused by mutation in the ARHGEF9 gene (300429). See also sporadic stiff-man syndrome (184850) and the 'Jumping Frenchmen of Maine' (244100). ... Klein et al. (1972) reported a family in which 10 persons spanning 3 generations had a congenital form of stiff-man syndrome. Affected members had attacks of stiffness precipitated by surprise or minor physical contact and characterized by difficulty in making sudden movements; signs of myotonia or myokymia were not present. ... Sander et al. (1980) reported a large family with dominantly inherited congenital stiff-man syndrome. Affected infants were hypertonic at birth, but their tone became almost normal by 3 years of age. ... Lingam et al. (1981) reported an affected family and suggested the term 'stiff-baby syndrome.' They noted that affected infants tend to look alert, frightened, and tense, and have a tendency to vomit due to hiatal hernias. ... Based on EMG findings, Ryan et al. (1989) concluded that startle disease and hereditary stiff-man syndrome are identical disorders. Hayashi et al. (1991) reported 2 unrelated Japanese families with hyperekplexia.
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Periapical Periodontitis
Wikipedia
MeSH : D010485 v t e Oral and maxillofacial pathology Lips Cheilitis Actinic Angular Plasma cell Cleft lip Congenital lip pit Eclabium Herpes labialis Macrocheilia Microcheilia Nasolabial cyst Sun poisoning Trumpeter's wart Tongue Ankyloglossia Black hairy tongue Caviar tongue Crenated tongue Cunnilingus tongue Fissured tongue Foliate papillitis Glossitis Geographic tongue Median rhomboid glossitis Transient lingual papillitis Glossoptosis Hypoglossia Lingual thyroid Macroglossia Microglossia Rhabdomyoma Palate Bednar's aphthae Cleft palate High-arched palate Palatal cysts of the newborn Inflammatory papillary hyperplasia Stomatitis nicotina Torus palatinus Oral mucosa – Lining of mouth Amalgam tattoo Angina bullosa haemorrhagica Behçet's disease Bohn's nodules Burning mouth syndrome Candidiasis Condyloma acuminatum Darier's disease Epulis fissuratum Erythema multiforme Erythroplakia Fibroma Giant-cell Focal epithelial hyperplasia Fordyce spots Hairy leukoplakia Hand, foot and mouth disease Hereditary benign intraepithelial dyskeratosis Herpangina Herpes zoster Intraoral dental sinus Leukoedema Leukoplakia Lichen planus Linea alba Lupus erythematosus Melanocytic nevus Melanocytic oral lesion Molluscum contagiosum Morsicatio buccarum Oral cancer Benign: Squamous cell papilloma Keratoacanthoma Malignant: Adenosquamous carcinoma Basaloid squamous carcinoma Mucosal melanoma Spindle cell carcinoma Squamous cell carcinoma Verrucous carcinoma Oral florid papillomatosis Oral melanosis Smoker's melanosis Pemphigoid Benign mucous membrane Pemphigus Plasmoacanthoma Stomatitis Aphthous Denture-related Herpetic Smokeless tobacco keratosis Submucous fibrosis Ulceration Riga–Fede disease Verruca vulgaris Verruciform xanthoma White sponge nevus Teeth ( pulp , dentin , enamel ) Amelogenesis imperfecta Ankylosis Anodontia Caries Early childhood caries Concrescence Failure of eruption of teeth Dens evaginatus Talon cusp Dentin dysplasia Dentin hypersensitivity Dentinogenesis imperfecta Dilaceration Discoloration Ectopic enamel Enamel hypocalcification Enamel hypoplasia Turner's hypoplasia Enamel pearl Fluorosis Fusion Gemination Hyperdontia Hypodontia Maxillary lateral incisor agenesis Impaction Wisdom tooth impaction Macrodontia Meth mouth Microdontia Odontogenic tumors Keratocystic odontogenic tumour Odontoma Dens in dente Open contact Premature eruption Neonatal teeth Pulp calcification Pulp stone Pulp canal obliteration Pulp necrosis Pulp polyp Pulpitis Regional odontodysplasia Resorption Shovel-shaped incisors Supernumerary root Taurodontism Trauma Avulsion Cracked tooth syndrome Vertical root fracture Occlusal Tooth loss Edentulism Tooth wear Abrasion Abfraction Acid erosion Attrition Periodontium ( gingiva , periodontal ligament , cementum , alveolus ) – Gums and tooth-supporting structures Cementicle Cementoblastoma Gigantiform Cementoma Eruption cyst Epulis Pyogenic granuloma Congenital epulis Gingival enlargement Gingival cyst of the adult Gingival cyst of the newborn Gingivitis Desquamative Granulomatous Plasma cell Hereditary gingival fibromatosis Hypercementosis Hypocementosis Linear gingival erythema Necrotizing periodontal diseases Acute necrotizing ulcerative gingivitis Pericoronitis Peri-implantitis Periodontal abscess Periodontal trauma Periodontitis Aggressive As a manifestation of systemic disease Chronic Perio-endo lesion Teething Periapical, mandibular and maxillary hard tissues – Bones of jaws Agnathia Alveolar osteitis Buccal exostosis Cherubism Idiopathic osteosclerosis Mandibular fracture Microgenia Micrognathia Intraosseous cysts Odontogenic : periapical Dentigerous Buccal bifurcation Lateral periodontal Globulomaxillary Calcifying odontogenic Glandular odontogenic Non-odontogenic: Nasopalatine duct Median mandibular Median palatal Traumatic bone Osteoma Osteomyelitis Osteonecrosis Bisphosphonate-associated Neuralgia-inducing cavitational osteonecrosis Osteoradionecrosis Osteoporotic bone marrow defect Paget's disease of bone Periapical abscess Phoenix abscess Periapical periodontitis Stafne defect Torus mandibularis Temporomandibular joints , muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities Bruxism Condylar resorption Mandibular dislocation Malocclusion Crossbite Open bite Overbite Overeruption Overjet Prognathia Retrognathia Scissor bite Maxillary hypoplasia Temporomandibular joint dysfunction Salivary glands Benign lymphoepithelial lesion Ectopic salivary gland tissue Frey's syndrome HIV salivary gland disease Necrotizing sialometaplasia Mucocele Ranula Pneumoparotitis Salivary duct stricture Salivary gland aplasia Salivary gland atresia Salivary gland diverticulum Salivary gland fistula Salivary gland hyperplasia Salivary gland hypoplasia Salivary gland neoplasms Benign: Basal cell adenoma Canalicular adenoma Ductal papilloma Monomorphic adenoma Myoepithelioma Oncocytoma Papillary cystadenoma lymphomatosum Pleomorphic adenoma Sebaceous adenoma Malignant: Acinic cell carcinoma Adenocarcinoma Adenoid cystic carcinoma Carcinoma ex pleomorphic adenoma Lymphoma Mucoepidermoid carcinoma Sclerosing polycystic adenosis Sialadenitis Parotitis Chronic sclerosing sialadenitis Sialectasis Sialocele Sialodochitis Sialosis Sialolithiasis Sjögren's syndrome Orofacial soft tissues – Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia Melkersson–Rosenthal syndrome Microstomia Noma Oral Crohn's disease Orofacial granulomatosis Perioral dermatitis Pyostomatitis vegetans Other Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic diseaseFGF2, IL17A, CCL2, CIITA, CCR2, CXCR2, TNFSF11, IL6, IL1B, TNFRSF11B, TNF, CXCL8, MMP2, SIRT1, IL12B, SEMA3A, IL10, TLR4, CRP, BTF3P11, SERPINB1, CD14, SIRT2, FXR1, AHSA1, TP63, HSPB3, NRP1, FADD, SEMA4D, TNFRSF11A, AIM2, GRAP2, ADIPOQ, ALB, ICOSLG, AOPEP, TRAP, MIR335, MIR155, MIR143, NLRP3, NLRP12, WNT3A, WNK1, RNF19A, GORASP1, CTNNBL1, SIRT6, ICOS, SETD2, POLDIP2, WNT9B, AIMP2, TGFB1, WNT11, FCGR3A, HSPB2, HSPB1, HIF1A, CXCL3, FSHMD1A, FLNA, CTSK, IL1A, MAPK14, CRK, COL1A1, CASP1, BTK, BGLAP, ICAM1, KCNK3, WNT5A, SPP1, WNT3, WIPF1, TLR2, TIMP1, ALOX5, SYT1, RELA, LEP, MAPK3, MAPK1, OSM, MYD88, MMP9, MDK, LOC102723996
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Rhabdomyosarcoma
Mayo_clinic
But most children with rhabdomyosarcoma have no family history of cancer. Genetic syndromes that increase the risk of cancer. In rare instances, rhabdomyosarcoma has been linked to genetic syndromes that are passed from parents to children, including neurofibromatosis 1, Noonan syndrome, Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome and Costello syndrome.NBN, ALK, PTCH1, FGFR4, HRAS, DICER1, BUB1B, PMS2, IGF2, MYOD1, VEGFA, CNR1, SLC22A18, PTMA, TIMM10, CDKN2A, ANGPT2, NF1, NRAS, RHD, GLI1, IGF1R, DES, MSH6, BUB1, TRIP13, BUB3, MC1R, MDM2, EPHB2, MAPK1, CEP57, FOXO1, PAX3, BRCA1, PIK3CA, PIK3CG, MYCN, PIK3CD, MSH2, PIK3CB, TP53, MYOG, MLH1, PAX7, IGF1, AKT1, MET, MIR206, TGFB1, EWSR1, FSD1, FSD1L, EGFR, CXCR4, ABCB1, DMD, CDK4, MYC, CAV1, TNF, KRAS, HDAC9, TBC1D9, SIX1, EGR1, CDKN1A, CXCL12, ACTB, MTOR, MAP2K7, EZR, STIM1, PLK1, MAPK8, EZH2, NES, PLAT, SLC2A1, MMP2, GLI2, IGFBP6, HGF, KIDINS220, NCOA2, ACKR3, YAP1, NR4A1, TDP1, HES1, PTGS2, IL15, RB1, IFNG, PTPN11, RPE65, CD274, MAPK14, VIM, H19, DUX4, CASP3, ARHGEF25, PROM1, DYRK1B, CTNNB1, CCND1, MIR27A, PARP1, BCL2, TFCP2, ILK, HDAC3, TBX2, BIRC2, KAT2B, RAG2, RASGRF1, IGFBP2, FGFR1, COL11A2, CRK, CRKL, TRA, MSTN, TNFRSF10B, ITGA2, MMP9, BMP4, BRAF, RNF19A, EIF3K, PLG, CASP8, AHSA1, MIR203A, CCK, CCND2, SMUG1, DLK1, KIF22, KIT, OBP2A, ABCC1, PTEN, POLDIP2, NFE2L2, GRAP2, PDGFRB, MIR450B, GPC3, GABPA, PHB2, SP1, ABCG2, FN1, SMARCA4, IL24, ORAI1, FOXM1, SMARCB1, FOXF1, FHL2, AIMP2, GPC5, SMO, ERBB2, PDGFRA, DNER, MBD2, SYT1, NHS, STAT3, WEE1, UTS2, NOTCH3, CCN3, SLC12A9, EGF, MIB1, EPHB4, EPHA3, HPSE, HMGA2, BFSP2, RGS5, COIL, TP63, CHEK2, TFPI2, LMO4, TAM, CKAP4, CLTCL1, MTMR11, ST8SIA2, NOG, PTCH2, HDAC4, PHOX2B, OLIG2, LRPPRC, ARPC5, HDAC6, MAML1, WASF1, NR1I2, RGN, BAG3, ZHX2, SLC16A4, SLC16A3, LARGE1, SYNJ1, SPRY1, NCOA1, FADD, TNFSF13B, IGF2BP1, PDLIM5, TNFSF14, CIB2, TNFSF10, CARM1, SPRY2, MERTK, OLFM1, MYCNOS, DLEU2, TUBA1B, EFS, ENOX2, AADAC, CEP164, WNT3A, CAVIN1, PGP, NUTM1, FNDC5, VGLL2, SMYD1, PDIK1L, PWAR1, TWIST2, TNFRSF13C, SLFN11, BMF, TANC1, IL21, RITA1, MAGT1, ARHGAP24, SPRY4, MINDY3, WLS, DHDDS, SLC52A2, GGCT, WNK1, MARCKSL1, GORASP1, CAVIN4, PRSS57, MIRLET7C, MIR145, LOC110806263, HBB-LCR, MTCO2P12, DUX4L9, MIR874, MIR605, MIR411, MIR545, MIR486-1, MIR410, MIR431, MIR378A, XRCC6P5, PLIN5, MIR17HG, MIR92A1, MIR29A, MIR223, MIR22, MIR214, MIR20A, MIR19B1, MIR19A, MIR197, MIR18A, GOLPH3, CXCL16, MMRN1, BRD1, SETD2, TRAC, TRAJ60, TRAV29DV5, DLL1, IGHV1-12, EML4, ANKRD1, DUX1, ANKRD2, PTPN22, PANX1, ZNF281, WDR48, SUZ12, HEY1, SIRT1, SATB2, VPS13A, CIC, PPRC1, CMTR1, ZNF609, KDM1A, HMGXB3, SIRT2, TRPM5, MRM2, IL22, SDF4, VANGL2, PNPLA2, CHPT1, XAB2, PARD3, PCDHA4, PDGFC, DEPDC1B, CCDC88A, NLRP2, FEM1A, HES6, ZNF331, MEG3, PACC1, GOLPH3L, MSTO1, FEV, P4HTM, FAM193B, NANS, LUC7L3, SUFU, ETV7, LEF1, ST8SIA4, RRM2, ZBTB16, HLA-DMA, HIF1A, HIC1, CFHR1, CFH, H2AX, GSK3B, GPT, UTS2R, GLI3, GLB1, G6PD, FUS, FOLH1, FLT1, FOXO3, FOXS1, FOXF2, FGFR3, FGF2, FCGRT, FABP2, F3, F2RL2, HLA-A, HMGB1, ETV4, HMOX1, LGALS3, JARID2, ITGAM, IRS1, INSRR, INSR, INSM1, CXCR2, CXCL8, IL6ST, IL6, IL4, IL1R1, RBPJ, ICAM1, IAPP, TNC, HTC2, HSP90AA1, HSPA4, HRG, HOXB6, HNRNPH1, F2R, ESR2, YES1, CAV2, CA5A, SERPING1, BMP2, BCL2L1, BAGE, ATP2B1, ATM, ARRB1, RHOA, APP, XIAP, APEX1, ANPEP, ALPP, ALPI, ALB, NR0B1, JAG1, AGER, AP2B1, AP2A1, ACVRL1, ACTL6A, CA8, CAV3, ESR1, CD47, ERG, ERBB3, EPOR, EPO, ENO2, ENG, EDN3, DNMT3B, DMPK, DCC, DAG1, CYP2B6, CLTC, CHRNG, CEACAM7, CEACAM3, CETN1, CEACAM5, CDKN2C, CDKN2B, CDKN1C, CDH15, CDC42, LIF, LTK, SMAD4, SSX1, SPP1, SP3, SOX11, SOX2, SOS1, SNRPF, SNAI1, SMARCA1, SLPI, SHH, FBXW4, SGK1, SGCA, MAP2K4, CCL11, CCL5, CCL2, TSPAN31, RPS6KA2, ROCK1, RELA, RBBP7, RAF1, SRMS, SSX2, MB, SS18, WT1, WNT2, UVRAG, UTRN, UCHL3, TXN, TTN, TP73, TNNT1, TH, TGFBR1, TFRC, TFE3, TFAP2B, TERT, TEAD1, TRBV20OR9-2, TBX3, TBP, TAZ, TAT, SYP, STAT6, MOK, PVALB, PTPRC, PTHLH, NM, NGF, NFKB1, NEU2, NELL1, NACA, PPP1R12A, MYL1, MYF6, MYF5, COX2, MPST, MMP14, MAP3K10, MKI67, CD99, CIITA, MGMT, KITLG, MEF2D, MEF2C, MDM4, MCL1, NOS1, NOS2, NOTCH1, ABCB4, PTH, PTBP1, PSG2, MAPK3, PKN1, PRKCI, PPARA, POU4F1, PLAU, PLAG1, SERPINF1, NPM1, PDPK1, PCNA, PAX9, PAX5, PAM, PAK1, SERPINE1, ODC1, NTRK1, YBX1, H3P10
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Varicocele
Wikipedia
Men with varicocele can feel symptoms of pain or heaviness in their scrotum . [5] Large varicoceles present as plexus of veins and may be described as "bag of worms". [6] [7] Varicocele is sometimes discovered when investigating the cause of male infertility . [8] [9] Cause [ edit ] Cross section showing the pampiniform venus plexus There are three main theories as to the anatomical cause; the first has to do with the geometry of the veins, wherein the vein on the left side connects to the larger outflowing vein at a right angle, which tends to fail; the second is that valves that are supposed to prevent backflow fail (venous insufficiency); the third is due to excessive pressure in upstream arteries, created by nutcracker syndrome . [10] Pathophysiology [ edit ] Often the greatest concern with respect to varicocele is its effect on male fertility. ... External links [ edit ] Classification D ICD - 10 : I86.1 ICD - 9-CM : 456.4 MeSH : D014646 DiseasesDB : 13731 External resources MedlinePlus : 001284 eMedicine : radio/739 Patient UK : Varicocele Medicine portal v t e Cardiovascular disease (vessels) Arteries , arterioles and capillaries Inflammation Arteritis Aortitis Buerger's disease Peripheral artery disease Arteriosclerosis Atherosclerosis Foam cell Fatty streak Atheroma Intermittent claudication Critical limb ischemia Monckeberg's arteriosclerosis Arteriolosclerosis Hyaline Hyperplastic Cholesterol LDL Oxycholesterol Trans fat Stenosis Carotid artery stenosis Renal artery stenosis Other Aortoiliac occlusive disease Degos disease Erythromelalgia Fibromuscular dysplasia Raynaud's phenomenon Aneurysm / dissection / pseudoaneurysm torso : Aortic aneurysm Abdominal aortic aneurysm Thoracic aortic aneurysm Aneurysm of sinus of Valsalva Aortic dissection Aortic rupture Coronary artery aneurysm head / neck Intracranial aneurysm Intracranial berry aneurysm Carotid artery dissection Vertebral artery dissection Familial aortic dissection Vascular malformation Arteriovenous fistula Arteriovenous malformation Telangiectasia Hereditary hemorrhagic telangiectasia Vascular nevus Cherry hemangioma Halo nevus Spider angioma Veins Inflammation Phlebitis Venous thrombosis / Thrombophlebitis primarily lower limb Deep vein thrombosis abdomen Hepatic veno-occlusive disease Budd–Chiari syndrome May–Thurner syndrome Portal vein thrombosis Renal vein thrombosis upper limb / torso Mondor's disease Paget–Schroetter disease head Cerebral venous sinus thrombosis Post-thrombotic syndrome Varicose veins Gastric varices Portacaval anastomosis Caput medusae Esophageal varices Hemorrhoid Varicocele Other Chronic venous insufficiency Chronic cerebrospinal venous insufficiency Superior vena cava syndrome Inferior vena cava syndrome Venous ulcer Arteries or veins Angiopathy Macroangiopathy Microangiopathy Embolism Pulmonary embolism Cholesterol embolism Paradoxical embolism Thrombosis Vasculitis Blood pressure Hypertension Hypertensive heart disease Hypertensive emergency Hypertensive nephropathy Essential hypertension Secondary hypertension Renovascular hypertension Benign hypertension Pulmonary hypertension Systolic hypertension White coat hypertension Hypotension Orthostatic hypotensionHIF1A, CASP9, IL1B, HSPD1, FAS, IL1A, PIK3CA, AKT1, PTEN, HPGDS, CAT, BCL2, GSTM1, SLCO6A1, CASP3, GSTT1, GSTK1, BRD2, HSPA2, TNF, IL6, SIRT1, LEP, GSTM2, MTA1, BAX, MIR210, DHDDS, RARA, AR, ATG7, TRPV1, PAPOLA, BECN1, ASAP2, PROKR1, CRISP3, MRPS30, ARTN, GNLY, TUSC2, PDAP1, ACP1, MGLL, PROK2, LYPD5, GSTO2, NLRP3, KISS1R, MAP1LC3A, DEFB126, CHPT1, PRDX5, RETN, MTPAP, ROPN1, ASAP1, IL37, ERAL1, VEGFA, REG3A, TLR4, CTH, HMOX1, GABPA, MTOR, FN1, FASN, ESR1, DNASE1, CDK4, TLR2, BNIP3, CCND1, FASLG, APOA1, ANXA2, AGRP, ACTB, HSPA4, HSP90AA1, IGFBP7, IL18, STAT1, SOD1, SNRPN, SHH, PRM1, ACP3, CLDN11, OGG1, NOS3, NFE2L2, MTHFR, COX2, MEFV, LEPR, KIF5B, FAM47C
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Rhabdoid Tumor Predisposition Syndrome
Gene_reviews
Summary Clinical characteristics. Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a markedly increased risk of developing rhabdoid tumors – rare and highly aggressive malignant tumors occurring predominantly in infants and children younger than age three years. ... Diagnosis Suggestive Findings Rhabdoid tumor predisposition syndrome (RTPS) should be suspected in an individual with any of the following clinical or laboratory features. ... Bourdeaut et al [2011], Biegel et al [2014] Clinical Characteristics Clinical Description Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a markedly increased risk of developing rhabdoid tumors. ... Progression occurred while on chemotherapy in 58% of individuals with RTPS [Sredni & Tomita 2015, EU-RHAB ‒ Author, personal communication]. Rhabdoid tumor and syndromic features suggestive of 22q11.2 distal deletion syndrome (OMIM 611867) Prognosis. ... Nomenclature Rhabdoid tumor predisposition syndrome may also be referred to as familial posterior fossa brain tumor syndrome.
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Polg-Related Disorders
Gene_reviews
Table 3 classifies the mtDNA depletion syndromes by phenotypic category and associated genes. ... To date FBXL4 -related mtDNA depletion syndrome has been reported in 50 individuals. ... (See Nuclear Gene-Encoded Leigh Syndrome Overview, Mitochondrial DNA-Associated Leigh Syndrome and NARP, and Mitochondrial DNA Deletion Syndromes.) ... Kearns-Sayre syndrome (KSS), a mtDNA deletion syndrome, is a multisystem disorder defined by the triad of onset before age 20 years, pigmentary retinopathy, and progressive external ophthalmoplegia (PEO). ... Pathogenic variants in BCS1L are associated with GRACILE ( g rowth r estriction, a minoaciduria, c holestasis, i ron overload, l actic acidosis, and e arly death) syndrome (OMIM 603358), Bjørnstad syndrome (congenital profound hearing loss and pili torti ) (OMIM 262000), and an overlapping GRACILE syndrome-Bjørnstad syndrome phenotype.
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Ichthyosis, X-Linked
Omim
These complicated forms of XLI thus represent contiguous gene deletion syndromes (Ballabio et al., 1989; Cuevas-Covarrubias and Gonzalez-Huerta, 2008). ... Ballabio et al. (1986) reported an Italian family in which 5 males had X-linked ichthyosis associated with STS deficiency as well as hypogonadotropic hypogonadism and anosmia, consistent with Kallmann syndrome. Linkage analysis suggested linkage between STS deficiency and X-linked Kallmann syndrome. ... All also had some form of anosmia, consistent with Kallmann syndrome. These families and the family reported by Andria et al. (1984) were postulated to have a microdeletion of Xp chromosome involving both the STS gene and the gene responsible for X-linked Kallmann syndrome. ... Heterogeneity Munke et al. (1983) documented heterogeneity in the syndrome of ichthyosis and hypogonadism, with STS deficiency in some cases and not in others. See 308200 for a discussion of Rud syndrome, in which ichthyosis and hypogonadism are combined with neurologic abnormality.
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Thrombophilia
Wikipedia
In some cases antiphospholipid syndrome can cause arterial as well as venous thrombosis. ... Centers of Disease Control . [40] Protein S deficiency followed in 1984, described by researchers at the University of Oklahoma . [4] [5] [41] Antiphospholipid syndrome was described in full in the 1980s, after various previous reports of specific antibodies in people with systemic lupus erythematosus and thrombosis. [15] [42] The syndrome is often attributed to the British rheumatologist Graham R.V. Hughes, and is often referred to as Hughes syndrome for that reason. [43] The more common genetic thrombophilias were described in the 1990s. ... PMID 15925818 . ^ Hull RP, Goldsmith DJ (May 2008). "Nephrotic syndrome in adults" . BMJ . 336 (7654): 1185–9. doi : 10.1136/bmj.39576.709711.80 . ... "Cerebral manifestations in the antiphospholipid (Hughes) syndrome". Rheum. Dis. Clin. North Am . 32 (3): 465–90. doi : 10.1016/j.rdc.2006.05.010 .
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Scoliosis
Wikipedia
Medical condition of the spine Scoliosis Pronunciation / ˌ s k oʊ l i ˈ oʊ s ɪ s / [1] Specialty Orthopedics Symptoms Sideways curve in the back [2] Usual onset 10–20 years old [2] Causes Usually unknown [3] Risk factors Family history, cerebral palsy , Marfan syndrome , tumors such as neurofibromatosis [2] Diagnostic method X-ray [2] Treatment Watchful waiting , bracing , exercises, surgery [2] [4] Frequency 3% [5] Scoliosis is a medical condition in which a person's spine has a sideways curve. [2] The curve is usually "S"- or "C"-shaped over three dimensions. [2] [6] In some, the degree of curve is stable, while in others, it increases over time. [3] Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. [3] [7] Pain is usually present in adults, and can worsen with age. [8] The cause of most cases is unknown, but it is believed to involve a combination of genetic and environmental factors . [3] Risk factors include other affected family members. [2] It can also occur due to another condition such as muscle spasms , cerebral palsy , Marfan syndrome , and tumors such as neurofibromatosis . [2] Diagnosis is confirmed with X-rays . [2] Scoliosis is typically classified as either structural in which the curve is fixed, or functional in which the underlying spine is normal. [2] Treatment depends on the degree of curve, location, and cause. [2] Minor curves may simply be watched periodically. [2] Treatments may include bracing , specific exercises, posture checking, and surgery. [2] [4] The brace must be fitted to the person and used daily until growing stops. [2] Specific exercises may be used to try to decrease the risk of worsening. [4] They may be done alone or along with other treatments such as bracing. [9] [10] Evidence that chiropractic manipulation , dietary supplements, or exercises can prevent the condition from worsening is weak. [2] [11] However, exercise is still recommended due to its other health benefits. [2] Scoliosis occurs in about 3% of people. [5] It most commonly develops between the ages of 10 and 20. [2] Females typically are more severely affected than males. [2] [3] The term is from Ancient Greek : σκολίωσις , romanized : skoliosis which means "a bending". [12] Contents 1 Signs and symptoms 1.1 Course 2 Causes 2.1 Resulting from other conditions 3 Diagnosis 3.1 Definition 4 Management 4.1 Bracing 4.2 Surgery 5 Prognosis 6 Epidemiology 7 History 7.1 Surgery 7.2 Evolution 8 Society and culture 9 Research 10 See also 11 References 12 External links Signs and symptoms [ edit ] A 20th-century illustration of a severe case of a "S" shaped scoliosis Symptoms associated with scoliosis can include: Pain in the back, shoulders, neck and buttock pain nearest the bottom of the back Respiratory or cardiac problems in severe cases Constipation due to curvature causing "tightening" of stomach, intestines, etc. ... Some conditions which may cause secondary scoliosis include muscular dystrophy , spinal muscular atrophy , poliomyelitis , cerebral palsy , spinal cord trauma, and myotonia . [28] [29] Scoliosis often presents itself, or worsens, during an adolescent's growth spurt and is more often diagnosed in females than males. [25] Scoliosis associated with known syndromes is often subclassified as "syndromic scoliosis". [ citation needed ] Scoliosis can be associated with amniotic band syndrome , Arnold–Chiari malformation , Charcot–Marie–Tooth disease , cerebral palsy , congenital diaphragmatic hernia , connective tissue disorders , muscular dystrophy , familial dysautonomia , CHARGE syndrome , Ehlers–Danlos syndrome (hyperflexibility, "floppy baby" syndrome, and other variants of the condition), fragile X syndrome , [30] [31] Friedreich's ataxia , hemihypertrophy , Loeys–Dietz syndrome , Marfan syndrome , nail–patella syndrome , neurofibromatosis , osteogenesis imperfecta , Prader–Willi syndrome , proteus syndrome , spina bifida , spinal muscular atrophy , syringomyelia , and pectus carinatum . [ citation needed ] Another form of secondary scoliosis is degenerative scoliosis, also known as de novo scoliosis, which develops later in life secondary to degenerative (may or may not be associated with aging) changes. ... CS1 maint: archived copy as title ( link ) ^ "Fragile X syndrome" . Department for Work and Pensions, UK. ... "Orthopaedic aspects of fragile-X syndrome". The Journal of Bone and Joint Surgery. ... Questions and Answers about Scoliosis in Children and Adolescents – US National Institute of Arthritis and Musculoskeletal and Skin Diseases Classification D ICD - 10 : M41 ICD - 9-CM : 737 MeSH : D012600 DiseasesDB : 26545 External resources MedlinePlus : 001241 v t e Spinal disease Deforming Spinal curvature Kyphosis Lordosis Scoliosis Other Scheuermann's disease Torticollis Spondylopathy inflammatory Spondylitis Ankylosing spondylitis Sacroiliitis Discitis Spondylodiscitis Pott disease non inflammatory Spondylosis Spondylolysis Spondylolisthesis Retrolisthesis Spinal stenosis Facet syndrome Back pain Neck pain Upper back pain Low back pain Coccydynia Sciatica Radiculopathy Intervertebral disc disorder Schmorl's nodes Degenerative disc disease Spinal disc herniation Facet joint arthrosis v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum Authority control BNF : cb11944282c (data) GND : 4055267-6 LCCN : sh85118750DLL3, ATAD3A, DLL1, SLC10A7, PIGU, PAX7, NOTCH1, TRAPPC4, FGFR3, MMP1, ROBO3, SH3TC2, PIEZO2, MECP2, TGFB1, COL1A1, FXN, STAT3, SELENON, FLNB, PMP22, EXT1, LBX1, RET, COL5A1, RUNX2, PLOD1, COL3A1, COL1A2, GJC2, SOX9, NGLY1, SOX5, SMAD3, ELN, FBN1, NUS1, SHOX, CCN6, RIN2, MYF5, PTPN11, SLC26A2, PTCH1, CHD7, CREBBP, CRLF1, NRXN1, ZMYND10, RYR1, LOX, ZBTB20, DNAH1, AUTS2, PHGDH, CNTNAP2, B3GAT3, ABCB7, LEMD3, SH2B1, SUZ12, KIAA0556, BICD2, RPGRIP1L, NEDD4L, SYNE1, OBSL1, SLC35A3, TGDS, SLC39A14, SIN3A, KAT6B, CLCF1, ATP6V0A2, LRRC6, NPAP1, FLRT1, RAB3GAP2, SAMHD1, TINF2, SETD2, HSPB8, OTUD6B, ZDHHC9, SBDS, TMEM216, NME8, DACT1, MBTPS2, TMEM138, LARP7, PIGT, SUFU, BSCL2, RAB23, RTEL1, INPP5K, MAP3K20, FGFRL1, GDAP1, TMCO1, MAGEL2, GTPBP2, TRAPPC12, NDUFAF1, YARS2, ATL1, TBL2, DNAI1, B9D1, STK36, TUBGCP4, PGAP2, CCDC22, FLVCR1, UBE2T, ANKRD11, STRN4, GMPPB, POMT2, SLC25A24, PSAT1, RRM2B, CHST11, NSDHL, CDON, EXOC6B, RAB18, SYNE2, CEP104, PIGL, TBX4, ADAMTS2, BAG3, GABBR2, GTF2IRD1, GOSR2, GDF3, SEC24C, SEMA3E, KMT2B, ECEL1, TMEM94, PIEZO1, KIAA0586, PTDSS1, CUL7, DNAJC6, RUSC2, SEC24D, WASHC5, MFN2, CHST3, CYP7B1, MED12, HERC1, DNAH11, EED, BANF1, DPM2, SYNJ1, MCM3AP, MTMR2, AP1S2, CACNA1G, HERC2, FOXH1, RECQL4, PLOD3, BAZ1B, SEMA5A, AIFM1, CTDP1, LARGE1, TRIP11, TRIP4, LONP1, COG1, RBM8A, SLC12A6, PMPCA, MRAS, RAI1, CPLX1, KCNQ1OT1, TLK2, PRDM5, POLR3A, ERLIN2, PDCD10, TREX1, RNF13, PUF60, PLK4, RAB3GAP1, HYDIN, DKK1, CEP152, ZNF292, EMC1, ZNF423, IQSEC2, PHF8, MAPK8IP3, STAG2, EBP, GNE, MAD2L2, HUWE1, PQBP1, MKRN3-AS1, ATP6AP2, CD96, SF3B4, TRAIP, APC2, CCNO, KLHL41, PIBF1, POMT1, SLC9A6, SEC23B, SEC23A, CRTAP, FBLN5, DEAF1, RNASEH2A, AGPAT2, ARFGEF2, COLEC10, P4HTM, WRAP53, AHI1, LRRC56, NEK9, GORAB, DRC1, MARS2, PGAP3, CCDC114, CEP41, NACC1, CHST14, SLC52A3, CCDC151, RSS, SP7, FGD4, DNAAF1, CANT1, B3GALT6, TBC1D20, DNAJC21, RIPPLY2, NDUFAF6, PIH1D3, TMEM67, SLC25A46, KLC4, RSPH1, ANTXR1, POMK, PHF6, COG8, SLX4, MEGF10, NKX6-2, GNPTG, ZNF469, MYPN, HES7, FAM126A, PIGO, LMNB2, DISP1, PIGY, CFAP300, COL27A1, ALG2, TUBGCP6, CCDC65, AMER1, A2ML1, DYM, CCDC103, PIGW, CAVIN1, DOK7, SH3PXD2B, SNORD115-1, CCDC39, MCIDAS, RSPH4A, DNAAF3, DNAJB13, MYMK, B3GLCT, KBTBD13, GDF6, LBX1-AS1, ALG11, PWRN1, SNORD116-1, KLLN, TTN-AS1, LINC02294, CHL1-AS2, KANSL1, H19, NALCN, RNASEH1, PWAR1, MESP2, CCBE1, ARL6IP6, CEP120, VPS13B, FAM120AOS, TMTC3, DNAAF4, SGMS2, ARX, ASXL1, ARID2, ALG14, ARL13B, FLCN, ANO5, HYLS1, JMJD1C, RSPH9, GAS2L2, RNASEH2C, ATRIP, BRIP1, SALL4, IARS2, ERMARD, CENPJ, ZC4H2, NDUFA12, ALG1, LMOD3, INPP5E, CFAP298, RARS2, ADGRG6, CCDC8, PLEKHG5, SHROOM4, ARID1B, HACE1, CC2D2A, ALS2, FANCM, GBA2, PRX, SPTBN4, PACS1, NHP2, PIGV, FOXRED1, SAMD9, APTX, BCOR, NSUN2, NCAPG2, MKS1, DNAAF5, RNF125, CCDC40, FANCL, ARMC4, DCHS1, MSTO1, RFWD3, DNAAF2, SETD5, FANCI, ASXL2, VPS53, UFSP2, NOP10, PRUNE1, TRPV4, SLC5A7, ROGDI, DYNC2H1, TBL1XR1, PALB2, TTC21B, CSPP1, TCTN2, CTC1, CEP290, FUZ, ARMC9, PUS1, ASXL3, DDHD1, SLC2A10, ADAMTS10, VANGL1, DDX59, TTC25, DNAL1, CCM2, RSPH3, USB1, FAT4, FKBP10, EFL1, TRAPPC11, PRDM16, XYLT1, IFIH1, P3H1, NSD1, NXN, SIL1, DNAI2, KLC2, PORCN, TMEM237, UPF3B, CPLANE1, COLEC11, FKRP, GNPTAB, TMEM43, TMEM231, TCTN1, RNASEH2B, PTCH2, GNPAT, MPZ, HPGD, GRIN1, GRIN2B, GTF2I, BRF1, GUSB, HTT, HNRNPH2, HNRNPK, HNRNPU, HRAS, FLNA, HSD17B4, HSPD1, HSPG2, IDH1, IDH2, IDUA, IGBP1, IGF2, IHH, GRIA3, GP1BB, GNAQ, GLI3, FN1, FOS, FUCA1, FZD2, GABRD, GAD1, B4GALNT1, GALNS, GARS1, GAS1, GAS8, GCH1, GFAP, GFPT1, GJB1, GPC3, GLB1, GLE1, GLI2, INPPL1, IPW, IRF6, MMP13, MPV17, CDK13, MRE11, MTM1, MUSK, MYH3, MYH7, MYH11, MYLK, MYOD1, NDN, NDP, NEB, NEU1, NFIX, TONSL, NODAL, NONO, NOTCH2, MPL, MEOX1, ITGA7, MEIS2, ITGB6, KCNH1, KCNJ2, KCNJ6, KIF5A, KIF22, KRAS, LAMA2, LAMB2, LETM1, LFNG, LIFR, LIG4, LIMK1, LMNA, LMX1B, LRP4, MAP1B, MAT2A, FMR1, FLII, NPHP1, SERPINH1, KIF1A, BDNF, BMPR1B, BRCA1, BRAF, BRCA2, CACNA1C, CAPN1, CAV1, CBS, FLI1, KRIT1, CDC42, CENPE, CFL2, CHRM3, CHRNA1, CHRNG, CLCN4, COL2A1, ATR, ATP7A, RERE, ASAH1, ACADS, ACTA1, ACTA2, ACTB, ACTG1, ACVR1, ADAR, AGA, AHSG, AKT1, ABCD1, ALDH3A2, ALX3, BIN1, APC, ABCC6, ARF1, ARL3, ARVCF, COL5A2, COL6A1, COL6A2, ERCC4, EZH2, FANCA, FANCC, FANCD2, FANCE, BPTF, FANCB, FANCF, FANCG, FKTN, GPC4, FGD1, FGF8, FGF14, FGFR1, FGFR2, FHL1, FOXG1, FOXE3, EXT2, EP300, COL6A3, EMD, COL12A1, COMP, COMT, CTBP1, CTNND2, CTSK, DCC, DDX3X, DHCR7, DKC1, DMD, DNAH5, DPAGT1, DPP6, ATN1, DVL1, DVL3, TOR1A, EFNB1, NOTCH3, EMC1-AS1, NPR2, TERT, TBCD, TBCE, TBX2, TBX5, TBX6, TCF4, TCF20, TDGF1, TERC, TGFB2, TRPS1, TGFB3, TGFBR1, TGFBR2, TGIF1, TK2, TNNI2, TNNT3, TPM2, TPM3, TBX1, MAP3K7, SYT1, VAMP1, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMS, SNRPB, SNRPN, SON, SOS1, SOS2, SOX4, SOX11, SPAG1, SPARC, NRAS, SRP54, SRY, SSR4, CDKL5, TRIO, TTN, SLCO2A1, TRRAP, GAN, GDF5, LZTR1, USP9X, RBM10, NAA10, LAGE3, ARID1A, COLQ, CDC45, TTPA, LTBP4, ABL1, CUL4B, OFD1, KCNAB2, IKBKG, ELP1, DEGS1, CASK, HMGA2, KMT2D, MFAP5, ALMS1, HIRA, TWIST1, UBA1, UBE3A, UFD1, SLC35A2, KDM6A, VDR, CLIP2, WHCR, NSD2, NELFA, WNT1, WNT5A, WT1, XRCC2, YWHAG, ZIC2, MKRN3, SMARCA2, SPG7, RAP1A, RAC1, PCNT, MASP1, PSMD12, PAX6, PTEN, PYCR1, ALDH18A1, RAD51, PCYT1A, RAD51C, RAF1, PIK3C2A, PAX3, PARN, RAP1B, RAPSN, PRPS1, PDE4D, RBBP8, PEX6, PLOD2, PODXL, POLA1, POLD1, PGM3, POLE, POR, PPARG, ENPP1, PPIB, PRKAR1A, PRKD1, PRKG1, MAP2K1, MAP2K2, SLC16A2, RASA2, PIK3CA, DPF2, TRAPPC2, SDHC, ROR2, SFRP4, SGCG, SDHB, DDR2, SHH, SBF1, SIX3, RREB1, RRAS, NUP88, SKI, RPS6KA3, RPL11, RPL10, RPGR, SLC6A3, RMRP, RIT1, OCRL, RFC2, P4HB, SDHD, IS1, GH1, TP63, AR, EOS, IH, LRP2, MCF2L, FBN2, MMP3, ACAN, ATP2A2, SERPINA1, BFSP2, MT1A, ATP2B4, KIF6, ATP2A3, ACR, TNFSF11, TUBB2B, ACTN3, MTNR1A, NTF3, PLF, KRT8P3, UBL4A, DYSF, LINC00649, NTRK1, GATA6, BGLAP, CCL2, EGR2, ESR1, F9, HTC2, EFEMP1, HGF, FGF2, CX3CL1, FGF23, SPAST, FOXC2, SGCA, SATB2, SMN2, SMN1, GHR, IL1B, IL6, TPH1, TAS2R38, CCDC6, TUBA1A, CAPN3, RUNX1, ZIC1, CD38, MATN1, CHD2, CHI3L1, LEP, ASH1L, PRL, CRP, CSF1R, KRT8, REM1