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Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Omim
Wilson et al. (1989) described the single case of a 2-year-old girl with virtual absence of body and scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and an unusual facial appearance consisting of dystopia canthorum, thickened frenulum giving an appearance of slight median cleft of the upper lip (pseudocleft), and a long, flat philtrum. The patient had 2 unaffected sibs, there was no parental consanguinity, and the karyotype was normal. Some of the features resembled those of OFD I (311200) and OFD II (252100), but the patient lacked cleft, tongue abnormalities, and radiographic irregularities sometimes seen in OFD. Further, OFD patients do not have the severe degree of alopecia that was present in this patient. INHERITANCE - Isolated cases HEAD & NECK Face - Micrognathia - Flat philtrum - Malar hypoplasia Eyes - Dystopia canthorum - Sparse eyebrows - Sparse eyelashes Nose - Flat nasal bridge Mouth - Thin upper lip - Thickened frenulum - Midline notch of upper alveolar ridge Teeth - Thin dental enamel - Dental caries SKELETAL Hands - Fifth finger clinodactyly Feet - Preaxial polydactyly - Duplicated halluces - Duplicated first metatarsals SKIN, NAILS, & HAIR Nails - Rounded nails Hair - Scalp alopecia - Body alopecia - Sparse eyebrows - Sparse eyelashes NEUROLOGIC Central Nervous System - Language delay ▲ Close
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Generalized Trichoepithelioma
Wikipedia
You can help Wikipedia by expanding it . v t e v t e Cancers of skin and associated structures Glands Sweat gland Eccrine Papillary eccrine adenoma Eccrine carcinoma Eccrine nevus Syringofibroadenoma Spiradenoma Apocrine Cylindroma Dermal cylindroma Syringocystadenoma papilliferum Papillary hidradenoma Hidrocystoma Apocrine gland carcinoma Apocrine nevus Eccrine / apocrine Syringoma Hidradenoma or Acrospiroma / Hidradenocarcinoma Ceruminous adenoma Sebaceous gland Nevus sebaceous Muir–Torre syndrome Sebaceous carcinoma Sebaceous adenoma Sebaceoma Sebaceous nevus syndrome Sebaceous hyperplasia Mantleoma Hair Pilomatricoma / Malignant pilomatricoma Trichoepithelioma Multiple familial trichoepithelioma Solitary trichoepithelioma Desmoplastic trichoepithelioma Generalized trichoepithelioma Trichodiscoma Trichoblastoma Fibrofolliculoma Trichilemmoma Trichilemmal carcinoma Proliferating trichilemmal cyst Giant solitary trichoepithelioma Trichoadenoma Trichofolliculoma Dilated pore Isthmicoma Fibrofolliculoma Perifollicular fibroma Birt–Hogg–Dubé syndrome Hamartoma Basaloid follicular hamartoma Folliculosebaceous cystic hamartoma Folliculosebaceous-apocrine hamartoma Nails Neoplasms of the nailbed
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Solitary Trichoepithelioma
Wikipedia
ISBN 0-7216-2921-0 . v t e Cancers of skin and associated structures Glands Sweat gland Eccrine Papillary eccrine adenoma Eccrine carcinoma Eccrine nevus Syringofibroadenoma Spiradenoma Apocrine Cylindroma Dermal cylindroma Syringocystadenoma papilliferum Papillary hidradenoma Hidrocystoma Apocrine gland carcinoma Apocrine nevus Eccrine / apocrine Syringoma Hidradenoma or Acrospiroma / Hidradenocarcinoma Ceruminous adenoma Sebaceous gland Nevus sebaceous Muir–Torre syndrome Sebaceous carcinoma Sebaceous adenoma Sebaceoma Sebaceous nevus syndrome Sebaceous hyperplasia Mantleoma Hair Pilomatricoma / Malignant pilomatricoma Trichoepithelioma Multiple familial trichoepithelioma Solitary trichoepithelioma Desmoplastic trichoepithelioma Generalized trichoepithelioma Trichodiscoma Trichoblastoma Fibrofolliculoma Trichilemmoma Trichilemmal carcinoma Proliferating trichilemmal cyst Giant solitary trichoepithelioma Trichoadenoma Trichofolliculoma Dilated pore Isthmicoma Fibrofolliculoma Perifollicular fibroma Birt–Hogg–Dubé syndrome Hamartoma Basaloid follicular hamartoma Folliculosebaceous cystic hamartoma Folliculosebaceous-apocrine hamartoma Nails Neoplasms of the nailbed This Epidermal nevi, neoplasms, cysts article is a stub .
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Work-Related Musculoskeletal Disorders
Wikipedia
They had been recognised as an issue since Bernardino Ramazzini 's time in the 17th century. [1] They have been known by many names including repetitive strain injury, occupational overuse syndrome and cumulative trauma disorders. [2] WMSDs can be divided into specific conditions with clear diagnostic criteria and pathological findings, which include tendon-related disorders (e.g. tendonitis), peripheral-nerve compression (e.g., pelvic inflammatory disease ), peripheral-nerve entrapment (e.g. carpal tunnel syndrome), neurovascular/vascular disorders (e.g. hand-arm vibration syndrome), and joint/joint-capsule disorders (e.g. osteoarthritis ) or non-specific conditions where the main complaint is pain or tenderness, or both, with limited or no pathological findings. [ citation needed ] References [ edit ] ^ Cave, Wilmer (1964).
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Facet Joint Arthrosis
Wikipedia
In the event of hypertrophy of the vertebrae painful arthrosis can occur. [1] The "lumbar facet arthrosis syndrome" was described in a 1987 article by S. ... You can help by adding to it . ( December 2017 ) See also [ edit ] Facet syndrome References [ edit ] ^ Genacol website - Arthrosis Archived 2015-11-26 at the Wayback Machine . Accessed 25 November 2015 ^ Eisenstein S M, Parry C R. The lumbar facet arthrosis syndrome-clinical presentation and articular surface changes.
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Sebaceoma
Wikipedia
ISBN 0-7216-2921-0 . v t e Cancers of skin and associated structures Glands Sweat gland Eccrine Papillary eccrine adenoma Eccrine carcinoma Eccrine nevus Syringofibroadenoma Spiradenoma Apocrine Cylindroma Dermal cylindroma Syringocystadenoma papilliferum Papillary hidradenoma Hidrocystoma Apocrine gland carcinoma Apocrine nevus Eccrine / apocrine Syringoma Hidradenoma or Acrospiroma / Hidradenocarcinoma Ceruminous adenoma Sebaceous gland Nevus sebaceous Muir–Torre syndrome Sebaceous carcinoma Sebaceous adenoma Sebaceoma Sebaceous nevus syndrome Sebaceous hyperplasia Mantleoma Hair Pilomatricoma / Malignant pilomatricoma Trichoepithelioma Multiple familial trichoepithelioma Solitary trichoepithelioma Desmoplastic trichoepithelioma Generalized trichoepithelioma Trichodiscoma Trichoblastoma Fibrofolliculoma Trichilemmoma Trichilemmal carcinoma Proliferating trichilemmal cyst Giant solitary trichoepithelioma Trichoadenoma Trichofolliculoma Dilated pore Isthmicoma Fibrofolliculoma Perifollicular fibroma Birt–Hogg–Dubé syndrome Hamartoma Basaloid follicular hamartoma Folliculosebaceous cystic hamartoma Folliculosebaceous-apocrine hamartoma Nails Neoplasms of the nailbed This Epidermal nevi, neoplasms, cysts article is a stub .
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Ectopic Kidney
Wikipedia
External links [ edit ] Classification D ICD - 10 : Q63.2 ICD - 9-CM : 753.3 v t e Congenital malformations and deformations of urinary system Abdominal Kidney Renal agenesis / Potter sequence , Papillorenal syndrome cystic Polycystic kidney disease Meckel syndrome Multicystic dysplastic kidney Medullary sponge kidney Horseshoe kidney Renal ectopia Nephronophthisis Supernumerary kidney Pelvic kidney Dent's disease Alport syndrome Ureter Ectopic ureter Megaureter Duplicated ureter Pelvic Bladder Bladder exstrophy Urethra Epispadias Hypospadias Posterior urethral valves Penoscrotal transposition Vestigial Urachus Urachal cyst Urachal fistula Urachal sinus This article related to the genitourinary system is a stub .
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Meige Disease
Wikipedia
Not to be confused with Meige's syndrome or Meigs's syndrome . Meige disease Other names Meige lymphedema , Late-onset lymphedema , Lymphedema hereditary type 2 , [1] Meige disease , or Meige lymphedema is a genetic disorder in which lymphedema later develops. [2] Meige disease is a primary lymphedema that is not caused by another condition; secondary lymphedema is a typical consequence of a mastectomy . ... Meige disease usually causes lymphedema of the legs, however, other areas of the body may be affected, including the arms, face and larynx. [4] See also [ edit ] Aagenaes syndrome List of cutaneous conditions Lymphedema praecox References [ edit ] ^ "Error 403" . ^ Reference, Genetics Home.
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Early Infantile Epileptic Encephalopathy
Gard
The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. Some children with this condition go on to develop other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome .ARX, GNAO1, CDKL5, SIK1, STXBP1, SCN2A, CASK, PIGQ, PNKP, TRIM8, DNM1, SCN1A, KCNA1, SLC25A22, PIGP, NEUROD2, SCN8A, KCNQ2, SMUG1, TP53, KLK3, AKT1, KCNT1, KEAP1, MIR675, MIR592, MIR367, MIR211, MIR106A, UBE2V1, TMEM189-UBE2V1, TMEM189, NPEPPS, PIF1, HERC6, TOPBP1, BRAT1, DMXL2, AFAP1-AS1, PSAT1, CALN1, CD276, SHC3, SOX18, CTCF, PROS1, RAG1, GPC3, ITGA3, IGF2, IBSP, HMOX1, HMGB1, HK2, GABPA, MGMT, FRA16D, F3, ERCC2, ERCC1, EPHB2, EGFR, JAK2, MID1, MAPK1, PIK3CD, PRKAB1, PRKAA2, PRKAA1, PPP2CA, PLAG1, PIK3CG, PIK3CB, MMP9, PIK3CA, SERPINF1, NFE2L2, MYC, MTX1, MTHFR, CCAT2
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Talon Cusp
Wikipedia
Talon cusp affects men and women equally, however the majority of reported cases are of the male gender. [4] Individuals of Asian , Arabic , Native American and Inuit descent are affected more commonly. [4] Talon cusp is also highly observed in patients with orofacial digital II syndrome and Rubinstein Taybi syndrome . ... Type I - Talon: The additional cusp or talon projects from the palatal surface of a primary or permanent anterior (front) tooth that extends at least half of the distance from the cemento enamel junction to the incisal edge. [ citation needed ] Type II - Semi Talon: The semi talon cusp measures about 1mm or more in length but extends less than half of the distance seen in Type I Talon. [6] Type III - Trace Talon: The projection originates from the cingulum (also known as the "cervical third") of the root and is enlarged or prominent in any form ( conical , bifid or tubercle-like) [6] Since many cases of Talon cusp go unreported, it is hard to draw linkage maps but it is safe to assume that dental formation is influenced by genetic factors. [4] Talon cusp is also seen in association with conditions such as Rubinstein-Taybi syndrome , Mohr syndrome , Ellis–van Creveld syndrome , Incontinentia pigmenti achromians , Berardinelli-Seip syndrome , and Sturge–Weber syndrome . [4] Treatment [ edit ] Treatment is only required if the occlusion or bite of the person is compromised and causing other dental problems. ... Recent research [ edit ] Future studies will look further into the relationship of talon cusp and Rubinstein-Taybi syndrome and other oral-facial-digital syndromes. A former study showed a direct correlation in which 45 affected patients with Rubinstein-Taybi syndrome , 92% of these patients had talon cusp. [4] [10] Other researchers are attempting to trace talon cusp to ancestors and comparing dentition to modern humans. ... "Oral aspects of Rubinstein-Taybi syndrome". American Journal of Medical Genetics.
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Intracerebral Hemorrhage
Wikipedia
Classification D ICD - 10 : I61 , P10.1 ICD - 9-CM : 431 MeSH : D002543 v t e Cerebrovascular diseases including stroke Ischaemic stroke Brain Anterior cerebral artery syndrome Middle cerebral artery syndrome Posterior cerebral artery syndrome Amaurosis fugax Moyamoya disease Dejerine–Roussy syndrome Watershed stroke Lacunar stroke Brain stem Brainstem stroke syndrome Medulla Medial medullary syndrome Lateral medullary syndrome Pons Medial pontine syndrome / Foville's Lateral pontine syndrome / Millard-Gubler Midbrain Weber's syndrome Benedikt syndrome Claude's syndrome Cerebellum Cerebellar stroke syndrome Extracranial arteries Carotid artery stenosis precerebral Anterior spinal artery syndrome Vertebrobasilar insufficiency Subclavian steal syndrome Classification Brain ischemia Cerebral infarction Classification Transient ischemic attack Total anterior circulation infarct Partial anterior circulation infarct Other CADASIL Binswanger's disease Transient global amnesia Haemorrhagic stroke Extra-axial Epidural Subdural Subarachnoid Cerebral/Intra-axial Intraventricular Brainstem Duret haemorrhages General Intracranial hemorrhage Aneurysm Intracranial aneurysm Charcot–Bouchard aneurysm Other Cerebral vasculitis Cerebral venous sinus thrombosis v t e Neurotrauma Traumatic brain injury Intracranial hemorrhage Intra-axial Intraparenchymal hemorrhage Intraventricular hemorrhage Extra-axial Subdural hematoma Epidural hematoma Subarachnoid hemorrhage Brain herniation Cerebral contusion Cerebral laceration Concussion Post-concussion syndrome Second-impact syndrome Dementia pugilistica Chronic traumatic encephalopathy Diffuse axonal injury Abusive head trauma Penetrating head injury Spinal cord injury Anterior spinal artery syndrome Brown-Séquard syndrome Cauda equina syndrome Central cord syndrome Paraplegia Posterior cord syndrome Spinal cord injury without radiographic abnormality Tetraplegia (Quadriplegia) Peripheral nerves Nerve injury Peripheral nerve injury classification Wallerian degeneration Injury of accessory nerve Brachial plexus injury Traumatic neuromaCASP8, CASP3, FLT1, PLAT, COL4A1, S100B, ACE, F7, MMP3, COL4A2, MMP9, MMP2, VEGFA, SPP1, ITGB3, ITGAV, ITGA2B, HMOX2, KDR, CNTF, HMOX1, NPPB, BCL2L1, BCL2, BAX, SERPINC1, POMC, PLAU, IL1RN, RELB, RELA, SQSTM1, PTGS2, BECN1, MT2A, NPY, NFKBIA, MT1A, THBS2, THBS1, MMP12, NFKB2, NFKB1, SLC24A1, CXCR4, MTOR, CD14, MAP1LC3A, SLC8B1, C3, DAG1, DCX, NQO1, BNIP3L, AQP4, CASP9, CASP12, APEX1, ANXA1, APP, CST3, SDHD, SMARCB1, CCM2, PMF1-BGLAP, SDHC, SDHB, HELLPAR, FCGR2C, SLC25A44, COLGALT1, TMEM127, VHL, SDHAF2, SUFU, SLC25A11, PARVB, KIF1B, USP18, PMF1, PDCD10, SH2B3, TMEM94, SDHA, LINC02444, RET, GDNF, ABCC6, KRIT1, DLST, ENG, F13A1, F13B, FGA, FGB, FGG, FH, PTCH1, GDF2, FN1, PROS1, CFI, JAK2, SMAD4, MAX, CD46, MDH2, ACVRL1, CFH, NF2, PDGFB, APOE, SERPINA3, AGTR1, APOB, APOH, HCRT, TUBB1, MTHFR, HSPB8, IGFBP3, ESR1
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Intracranial Aneurysm
Wikipedia
Hypertension , smoking , alcoholism , and obesity are associated with the development of brain aneurysms. [7] [8] [12] Cocaine use has also been associated with the development of intracranial aneurysms. [8] Other acquired associations with intracranial aneurysms include head trauma and infections. [7] Genetic associations [ edit ] Coarctation of the aorta is also a known risk factor, [7] as is arteriovenous malformation . [9] Genetic conditions associated with connective tissue disease may also be associated with the development of aneurysms. [7] This includes: [13] autosomal dominant polycystic kidney disease , neurofibromatosis type I , Marfan syndrome , multiple endocrine neoplasia type I, pseudoxanthoma elasticum , hereditary hemorrhagic telangiectasia and Ehlers-Danlos syndrome types II and IV. ... National Institute of Neurological Disorders and Stroke Classification D ICD - 10 : I67.1 ICD - 9-CM : 437.3 MeSH : D002532 SNOMED CT : 128609009 External resources MedlinePlus : 001414 v t e Cerebrovascular diseases including stroke Ischaemic stroke Brain Anterior cerebral artery syndrome Middle cerebral artery syndrome Posterior cerebral artery syndrome Amaurosis fugax Moyamoya disease Dejerine–Roussy syndrome Watershed stroke Lacunar stroke Brain stem Brainstem stroke syndrome Medulla Medial medullary syndrome Lateral medullary syndrome Pons Medial pontine syndrome / Foville's Lateral pontine syndrome / Millard-Gubler Midbrain Weber's syndrome Benedikt syndrome Claude's syndrome Cerebellum Cerebellar stroke syndrome Extracranial arteries Carotid artery stenosis precerebral Anterior spinal artery syndrome Vertebrobasilar insufficiency Subclavian steal syndrome Classification Brain ischemia Cerebral infarction Classification Transient ischemic attack Total anterior circulation infarct Partial anterior circulation infarct Other CADASIL Binswanger's disease Transient global amnesia Haemorrhagic stroke Extra-axial Epidural Subdural Subarachnoid Cerebral/Intra-axial Intraventricular Brainstem Duret haemorrhages General Intracranial hemorrhage Aneurysm Intracranial aneurysm Charcot–Bouchard aneurysm Other Cerebral vasculitis Cerebral venous sinus thrombosis 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 Authority control NDL : 01233175NCF1, NOS3, MMP9, TNF, CCL2, MMP2, TIMP2, TIMP1, CTSB, AOC3, CTSS, CST3, CTSK, AGER, CDKN2B-AS1, FHIT, IQSEC1, STARD13, CCDC80, FBN1, MYEOV, SUSD1, DSCAM, DRAM1, ELN, ANKRD44-IT1, CNNM2, MINK1, TCF24, LRRC3, CARHSP1, FMO4, GBA, RNF144A, ARHGAP32, PROM1, LINC02130, HLCS, SCARF1, PRDM2, BOLL, SLC47A1, CARD11, ANKRD44, LDHBP1, RP1, NAPA-AS1, PCAT1, CD163L1, OLFML2A, LINGO2, CAMK2B, SLC35F3, SLC2A14, LINC00558, LINC01237, TMOD1, PTPRD, ENG, IL6, COL1A2, ACE, LOX, PKD2, LPA, TLR4, PCYT1A, CERNA3, COL3A1, LIMK1, VCAN, ACTB, COL4A1, CDKN2A, SOX17, IL2RG, ACSM3, TCF12, TGFB1, PKD1, HSPG2, KLF2, FBN2, EDNRA, THSD1, MIR143, APOE, MIR29A, AGT, SERPINE1, NFKB1, NFE2L2, SERPINA1, OCA2, SERPINA3, PTGER2, RBBP8, SLC2A1, VEGFA, PEA15, KLK4, HDAC9, RNF213, HAVCR2, MYOCD, MIR146A, MIR155, MYH11, STAT1, GABPA, LOXL2, FN1, IL1A, CYBA, IFNG, CYP2C19, KLF5, CFD, CDKN2B, APOA1, CTNND1, HGF, FLNA, ATG14, ARHGEF28, DHFR, CARD8, GORASP1, WNK1, ZNF365, DECR1, PDGFD, VSIG4, MUC3B, ANGPTL6, LOXL4, NIFK, SCN11A, AKAP10, LOXL3, PDLIM5, ACE2, DPP4, LMOD1, GDE1, FGF2, GREM1, ATP6V0A2, SETD2, FGF1, NTM, NT5C3A, WWOX, WDR48, ETS1, ESR1, TNFRSF13B, SAGE1, ADCY10, E2F4, PRDM9, EDN1, MPO, CDH5, APOB, MIR29B2, MIR331, MIR448, APOA2, MIR33B, ANIB4, TSL, BIRC2, APC, ANXA3, TMX2-CTNND1, MIR4735, ANGPT1, HIF1A-AS1, ALB, LINC-ROR, PARP1, ADCY7, CBSL, ACTA2, ABCA4, MIR29B1, MIR25, INTS4, MIR23B, CD14, TMEM132B, JDP2, UBR3, MYO3B, CBS, CBR1, CASP3, C3AR1, COL22A1, ADAMTS15, FERD3L, BLM, AGMO, GASAL1, ATP4A, MIR145, ATP12A, APOC2, MIR205, MIR21, PRDM6, ARHGEF11, COQ7, PSG5, LBR, PTGFR, PTGS2, KDR, KCNJ2, RELA, REN, IL17A, S100A8, S100A9, IL12B, IL12A, CCL3, CXCL12, SELE, IL10, SLC19A1, SRPK1, ABCA1, STAT3, STAT4, PTEN, PLG, COX2, PLAT, MTHFR, MTR, MMP3, MYLK, NF1, NF2, MMP1, MET, NOS2, MCL1, NOTCH3, MAS1, PCNT, LOXL1, LIFR, PIK3CA, PIK3CB, PIK3CD, PIK3CG, LGALS9, LDLR, SYT1, IL2, TCN2, IL1B, H3C3, H3C6, H3C11, H3C8, H3C12, H3C10, H3C2, LTBP4, HPGD, HLA-A, IRS2, HIF1A, TNFSF10, H3C7, GSTO1, HCCS, NOS1AP, GYPE, GYPB, TOX, GYPA, H3C4, H3C1, IFT88, IARS1, TGFBI, TGFBR1, TGFBR2, TGFBR3, IGF1, TIMP3, TIMP4, TLR2, TM7SF2, HTR1B, RNF217-AS1, TNFRSF1A, TSC1, TWIST1, VCAM1, HSPA5, VHL, VIP, WNT3, HPN, MTCO2P12
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Bunion
Medlineplus
Bunions are also a feature of several rare genetic syndromes that affect bone development, including Chitayat syndrome and fibrodysplasia ossificans progressiva. ... When bunions occur as part of a genetic syndrome, this feature follows the inheritance pattern of the syndrome.
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Pauci-Immune
Wikipedia
And then they will be subjected to immunofluorescence, demonstrating three patterns: linear, granular and negative (pauci-immune). [1] The linear and granular patterns are examples of positive immunofluorescence that are associated as follows: Goodpasture syndrome (linear pattern), post-streptococcal glomerulonephritis (granular), and diffuse proliferative nephritis (granular). [1] The negative immunofluorescence pattern, however, is called "pauci-immune" and is often associated with systemic vasculitides (plural of vasculitis) including: microscopic polyangiitis , eosinophilic granulomatosis with polyangiitis (EGPA), and granulomatosis with polyangiitis (GPA). [1] [2] In the setting of systemic vasculitis as described above, proliferative nephritis is associated with antineutrophil cytoplasmic antibodies (ANCA) . [3] Because of this, an ANCA test should always follow a negative immunofluorescence result to have the highest accuracy for confirming pauci-immune vasculitis-driven proliferative nephritis. [1] Some cases of pauci-immune proliferative nephritis have no explanation and are thus deemed "idiopathic." ... See also [ edit ] Systemic vasculitis#Pauci-immune Goodpasture Syndrome and Poststrep Glomerulonephritis Microscopic polyangiitis , Eosinophilic granulomatosis with polyangiitis or Granulomatosis with polyangiitis References [ edit ] ^ a b c d e Sattar (2011). ... External links [ edit ] wikt:paucity v t e Systemic vasculitis Large vessel Takayasu's arteritis Giant cell arteritis Medium vessel Polyarteritis nodosa Kawasaki disease Thromboangiitis obliterans Small vessel Pauci-immune c-ANCA Granulomatosis with polyangiitis p-ANCA Eosinophilic granulomatosis with polyangiitis Microscopic polyangiitis Type III hypersensitivity Cutaneous small-vessel vasculitis IgA vasculitis Ungrouped Acute hemorrhagic edema of infancy Cryoglobulinemic vasculitis Bullous small vessel vasculitis Cutaneous small-vessel vasculitis Other Goodpasture syndrome Sneddon's syndrome This cutaneous condition article is a stub .PRTN3, MPO, CTLA4, SERPINA1, C5AR1, TNF, TLR9, HLA-DRB1, WG, C5, CD163, GYPA, IL1A, RBM45, ALB, TPMT, ACR, PTPN22, HMGB1, VEGFA, TNFRSF1B, TNFRSF1A, NLRP3, TLR4, TNFSF13B, TGFB2, TGFB1, SELP, CCL20, CCL2, TLR2, KDM6B, BTG3, KRT20, NLRC5, NOD2, IGAN1, HAMP, SEMA6A, CD177, TREM1, IL33, CYCS, SERPINA13P, FOXP3, SGSM3, S100A8, GCA, SERPINA3, PDCD1, PON1, PLG, NR3C1, GHSR, FCGR2A, FCGR1A, S1PR1, DPP4, ACE, CD55, CRP, CD59, CD40LG, ENTPD1, MS4A1, CAMP, ANXA1, GTF2I, HLA-DPB1, HSD11B1, ITGAM, PGD, MX1, CD46, LEPR, LEP, LAMP2, IL18, IFNA1, IL10, IL6, IL2RA, IL1RN, IL1B, IFNA13, NCF1
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Gastric Atresia
Wikipedia
It can be genetic, inherited in an autosomal recessive manner, and associated with conditions like Down syndrome and junctional epidermolysis bullosa (medicine) . [2] In about 60% of cases, the outlet of the stomach is covered by a membrane . ... Elsevier. 2017. pp. 861–870. v t e Congenital malformations and deformations of digestive system Upper GI tract Tongue , mouth and pharynx Cleft lip and palate Van der Woude syndrome tongue Ankyloglossia Macroglossia Hypoglossia Esophagus EA/TEF Esophageal atresia: types A, B, C, and D Tracheoesophageal fistula: types B, C, D and E esophageal rings Esophageal web (upper) Schatzki ring (lower) Stomach Pyloric stenosis Hiatus hernia Lower GI tract Intestines Intestinal atresia Duodenal atresia Meckel's diverticulum Hirschsprung's disease Intestinal malrotation Dolichocolon Enteric duplication cyst Rectum / anal canal Imperforate anus Rectovestibular fistula Persistent cloaca Rectal atresia Accessory Pancreas Annular pancreas Accessory pancreas Johanson–Blizzard syndrome Pancreas divisum Bile duct Choledochal cysts Caroli disease Biliary atresia Liver Alagille syndrome Polycystic liver disease This medical diagnostic article is a stub .
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Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Orphanet
A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.
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Non-Syndromic Genetic Deafness
Orphanet
Eleven of these genes have been implicated in both isolated and syndromic forms of deafness. Mutations in the gene encoding connexin 26 appear to be responsible for the majority of cases of childhood perceptive deafness.
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Isolated Trigonocephaly
Orphanet
Premature fusion of the metopic suture may occur both in syndromic and in nonsyndromic forms of synostosis. Differential diagnosis The differential diagnosis should include trisomy 13 and other chromosomal disorders (distal monosomy 9p and 11q), as well as C syndrome (see these terms), and is based on the presence of multiple anomalies (including facial dysmorphism, organ anomalies and intellectual deficit) in the syndromic forms. Fetal exposure to valproic acid during pregnancy usually leads to trigonocephaly, which in this case is often associated with intellectual deficit and dysmorphic features, and therefore fetal valproate syndrome (see this term) should also be included in the differential diagnosis.FREM1, FGFR1, FGFR2, TWIST1, WDR35, ZIC1, TCF12, NELL1, BBS9, SMAD6, IFT122, EZH2, BMP2, ERF, EFNB1, ALX4, GLI3, CD96, EFTUD2, IFT140, ASXL1, HUWE1, ADNP, SRCAP, ARHGEF9, C2CD3, MAGEL2, DPM2, KLHL7, TRIP12, ACTB, PDHX, ZIC2, CHD4, DPH1, FLI1, GNAS, KRAS, KMT2A, MSX2, FLCN, PPP3CA, PTCH1, RB1, DPF2, SLC6A9, ACTG1, CDON, MECP2, SOX11, CER1, FOXP1
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Oligomeganephronia
Orphanet
Oligomeganephronia can occur as part of a multi-organ syndrome such as renal coloboma syndrome (see this term), which is caused by mutations in the PAX2 gene (10q24.31), or can be caused by chromosomal disorders including 22q11 deletion syndrome or Wolf-Hirschhorn syndrome (see this term).
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Lower Motor Neuron Syndrome With Late-Adult Onset
Orphanet
Epidemiology More than 97 patients have been described with Lower motor neuron syndrome with late-adult onset to date, all originating from Finland, where the point prevalence estimate rises to 1/8,000 in northern Karelia.