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Hallucinogen Persisting Perception Disorder
Wikipedia
. , OCLC 964500128 CS1 maint: multiple names: authors list ( link ) External links [ edit ] Classification D ICD - 10 : F16 .7 ICD - 9-CM : 292.89 External resources Patient UK : Hallucinogen persisting perception disorder v t e Psychoactive substance-related disorder General SID Substance intoxication / Drug overdose Substance-induced psychosis Withdrawal : Craving Neonatal withdrawal Post-acute-withdrawal syndrome (PAWS) SUD Substance abuse / Substance-related disorders Physical dependence / Psychological dependence / Substance dependence Combined substance use SUD Polysubstance dependence SID Combined drug intoxication (CDI) Alcohol SID Cardiovascular diseases Alcoholic cardiomyopathy Alcohol flush reaction (AFR) Gastrointestinal diseases Alcoholic liver disease (ALD): Alcoholic hepatitis Auto-brewery syndrome (ABS) Endocrine diseases Alcoholic ketoacidosis (AKA) Nervous system diseases Alcohol-related dementia (ARD) Alcohol intoxication Hangover Neurological disorders Alcoholic hallucinosis Alcoholic polyneuropathy Alcohol-related brain damage Alcohol withdrawal syndrome (AWS): Alcoholic hallucinosis Delirium tremens (DTs) Fetal alcohol spectrum disorder (FASD) Fetal alcohol syndrome (FAS) Korsakoff syndrome Positional alcohol nystagmus (PAN) Wernicke–Korsakoff syndrome (WKS, Korsakoff psychosis) Wernicke encephalopathy (WE) Respiratory tract diseases Alcohol-induced respiratory reactions Alcoholic lung disease SUD Alcoholism (alcohol use disorder (AUD)) Binge drinking Caffeine SID Caffeine-induced anxiety disorder Caffeine-induced sleep disorder Caffeinism SUD Caffeine dependence Cannabis SID Cannabis arteritis Cannabinoid hyperemesis syndrome (CHS) SUD Amotivational syndrome Cannabis use disorder (CUD) Synthetic cannabinoid use disorder Cocaine SID Cocaine intoxication Prenatal cocaine exposure (PCE) SUD Cocaine dependence Hallucinogen SID Acute intoxication from hallucinogens (bad trip) Hallucinogen persisting perception disorder (HPPD) Nicotine SID Nicotine poisoning Nicotine withdrawal SUD Nicotine dependence Opioids SID Opioid overdose SUD Opioid use disorder (OUD) Sedative / hypnotic SID Kindling (sedative–hypnotic withdrawal) benzodiazepine : SID Benzodiazepine overdose Benzodiazepine withdrawal SUD Benzodiazepine use disorder (BUD) Benzodiazepine dependence barbiturate : SID Barbiturate overdose SUD Barbiturate dependence Stimulants SID Stimulant psychosis amphetamine : SUD Amphetamine dependence Volatile solvent SID Sudden sniffing death syndrome (SSDS) Toluene toxicity SUD Inhalant abuse
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Middle East Respiratory Syndrome
Wikipedia
Retrieved 16 April 2020 . ^ "Middle East respiratory syndrome (MERS)" . nhs.uk . 23 August 2018 . ... S2CID 40023145 . ^ "Middle East respiratory syndrome coronavirus (MERS-CoV)" . www.who.int . ... "State of Knowledge and Data Gaps of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in Humans" . ... Retrieved 17 May 2014 . ^ "Middle East respiratory syndrome coronavirus (MERS-CoV) – Turkey" . ... "The role of superspreading in Middle East respiratory syndrome coronavirus (MERS-CoV) transmission" .VTN, CDSN, DPP4, SARS2, SARS1, DEFB4B, ISG15, TMPRSS2, DEFB4A, IFNA1, IFNA13, IFNB1, ADA, IFITM3, MERTK, SH2D3C, SH2D3A, DDX58, SIRT1, IFIH1, PYCARD, TLR7, ERVK-6, IFITM1, PDF, ROBO3, SPECC1, ASZ1, TMPRSS11A, SIRT1-AS, SH3BP5, STAT3, TRIM25, IRF3, TSPO, CHRM3, CRP, CTSL, GPER1, HSPA5, IL1B, CXCL10, KIT, TNF, KRT14, MAX, PPIA, PPP1CA, PLAAT4, RNASEL, SLC5A5, ATP1A1, ERVK-32
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Pseudofolliculitis Barbae
Wikipedia
External links [ edit ] Classification D ICD - 10 : L73.1 ICD - 9-CM : 704.8 MeSH : C563016 DiseasesDB : 31373 External resources MedlinePlus : 000823 eMedicine : derm/354 Wikimedia Commons has media related to Pseudofolliculitis barbae . v t e Diseases of the skin and appendages by morphology Growths Epidermal Wart Callus Seborrheic keratosis Acrochordon Molluscum contagiosum Actinic keratosis Squamous-cell carcinoma Basal-cell carcinoma Merkel-cell carcinoma Nevus sebaceous Trichoepithelioma Pigmented Freckles Lentigo Melasma Nevus Melanoma Dermal and subcutaneous Epidermal inclusion cyst Hemangioma Dermatofibroma (benign fibrous histiocytoma) Keloid Lipoma Neurofibroma Xanthoma Kaposi's sarcoma Infantile digital fibromatosis Granular cell tumor Leiomyoma Lymphangioma circumscriptum Myxoid cyst Rashes With epidermal involvement Eczematous Contact dermatitis Atopic dermatitis Seborrheic dermatitis Stasis dermatitis Lichen simplex chronicus Darier's disease Glucagonoma syndrome Langerhans cell histiocytosis Lichen sclerosus Pemphigus foliaceus Wiskott–Aldrich syndrome Zinc deficiency Scaling Psoriasis Tinea ( Corporis Cruris Pedis Manuum Faciei ) Pityriasis rosea Secondary syphilis Mycosis fungoides Systemic lupus erythematosus Pityriasis rubra pilaris Parapsoriasis Ichthyosis Blistering Herpes simplex Herpes zoster Varicella Bullous impetigo Acute contact dermatitis Pemphigus vulgaris Bullous pemphigoid Dermatitis herpetiformis Porphyria cutanea tarda Epidermolysis bullosa simplex Papular Scabies Insect bite reactions Lichen planus Miliaria Keratosis pilaris Lichen spinulosus Transient acantholytic dermatosis Lichen nitidus Pityriasis lichenoides et varioliformis acuta Pustular Acne vulgaris Acne rosacea Folliculitis Impetigo Candidiasis Gonococcemia Dermatophyte Coccidioidomycosis Subcorneal pustular dermatosis Hypopigmented Tinea versicolor Vitiligo Pityriasis alba Postinflammatory hyperpigmentation Tuberous sclerosis Idiopathic guttate hypomelanosis Leprosy Hypopigmented mycosis fungoides Without epidermal involvement Red Blanchable Erythema Generalized Drug eruptions Viral exanthems Toxic erythema Systemic lupus erythematosus Localized Cellulitis Abscess Boil Erythema nodosum Carcinoid syndrome Fixed drug eruption Specialized Urticaria Erythema ( Multiforme Migrans Gyratum repens Annulare centrifugum Ab igne ) Nonblanchable Purpura Macular Thrombocytopenic purpura Actinic/solar purpura Papular Disseminated intravascular coagulation Vasculitis Indurated Scleroderma / morphea Granuloma annulare Lichen sclerosis et atrophicus Necrobiosis lipoidica Miscellaneous disorders Ulcers Hair Telogen effluvium Androgenic alopecia Alopecia areata Systemic lupus erythematosus Tinea capitis Loose anagen syndrome Lichen planopilaris Folliculitis decalvans Acne keloidalis nuchae Nail Onychomycosis Psoriasis Paronychia Ingrown nail Mucous membrane Aphthous stomatitis Oral candidiasis Lichen planus Leukoplakia Pemphigus vulgaris Mucous membrane pemphigoid Cicatricial pemphigoid Herpesvirus Coxsackievirus Syphilis Systemic histoplasmosis Squamous-cell carcinoma v t e Disorders of skin appendages Nail thickness: Onychogryphosis Onychauxis color: Beau's lines Yellow nail syndrome Leukonychia Azure lunula shape: Koilonychia Nail clubbing behavior: Onychotillomania Onychophagia other: Ingrown nail Anonychia ungrouped: Paronychia Acute Chronic Chevron nail Congenital onychodysplasia of the index fingers Green nails Half and half nails Hangnail Hapalonychia Hook nail Ingrown nail Lichen planus of the nails Longitudinal erythronychia Malalignment of the nail plate Median nail dystrophy Mees' lines Melanonychia Muehrcke's lines Nail–patella syndrome Onychoatrophy Onycholysis Onychomadesis Onychomatricoma Onychomycosis Onychophosis Onychoptosis defluvium Onychorrhexis Onychoschizia Platonychia Pincer nails Plummer's nail Psoriatic nails Pterygium inversum unguis Pterygium unguis Purpura of the nail bed Racquet nail Red lunulae Shell nail syndrome Splinter hemorrhage Spotted lunulae Staining of the nail plate Stippled nails Subungual hematoma Terry's nails Twenty-nail dystrophy Hair Hair loss / Baldness noncicatricial alopecia : Alopecia areata totalis universalis Ophiasis Androgenic alopecia (male-pattern baldness) Hypotrichosis Telogen effluvium Traction alopecia Lichen planopilaris Trichorrhexis nodosa Alopecia neoplastica Anagen effluvium Alopecia mucinosa cicatricial alopecia : Pseudopelade of Brocq Central centrifugal cicatricial alopecia Pressure alopecia Traumatic alopecia Tumor alopecia Hot comb alopecia Perifolliculitis capitis abscedens et suffodiens Graham-Little syndrome Folliculitis decalvans ungrouped: Triangular alopecia Frontal fibrosing alopecia Marie Unna hereditary hypotrichosis Hypertrichosis Hirsutism Acquired localised generalised patterned Congenital generalised localised X-linked Prepubertal Acneiform eruption Acne Acne vulgaris Acne conglobata Acne miliaris necrotica Tropical acne Infantile acne / Neonatal acne Excoriated acne Acne fulminans Acne medicamentosa (e.g., steroid acne ) Halogen acne Iododerma Bromoderma Chloracne Oil acne Tar acne Acne cosmetica Occupational acne Acne aestivalis Acne keloidalis nuchae Acne mechanica Acne with facial edema Pomade acne Acne necrotica Blackhead Lupus miliaris disseminatus faciei Rosacea Perioral dermatitis Granulomatous perioral dermatitis Phymatous rosacea Rhinophyma Blepharophyma Gnathophyma Metophyma Otophyma Papulopustular rosacea Lupoid rosacea Erythrotelangiectatic rosacea Glandular rosacea Gram-negative rosacea Steroid rosacea Ocular rosacea Persistent edema of rosacea Rosacea conglobata variants Periorificial dermatitis Pyoderma faciale Ungrouped Granulomatous facial dermatitis Idiopathic facial aseptic granuloma Periorbital dermatitis SAPHO syndrome Follicular cysts " Sebaceous cyst " Epidermoid cyst Trichilemmal cyst Steatocystoma simplex multiplex Milia Inflammation Folliculitis Folliculitis nares perforans Tufted folliculitis Pseudofolliculitis barbae Hidradenitis Hidradenitis suppurativa Recurrent palmoplantar hidradenitis Neutrophilic eccrine hidradenitis Ungrouped Acrokeratosis paraneoplastica of Bazex Acroosteolysis Bubble hair deformity Disseminate and recurrent infundibulofolliculitis Erosive pustular dermatitis of the scalp Erythromelanosis follicularis faciei et colli Hair casts Hair follicle nevus Intermittent hair–follicle dystrophy Keratosis pilaris atropicans Kinking hair Koenen's tumor Lichen planopilaris Lichen spinulosus Loose anagen syndrome Menkes kinky hair syndrome Monilethrix Parakeratosis pustulosa Pili ( Pili annulati Pili bifurcati Pili multigemini Pili pseudoannulati Pili torti ) Pityriasis amiantacea Plica neuropathica Poliosis Rubinstein–Taybi syndrome Setleis syndrome Traumatic anserine folliculosis Trichomegaly Trichomycosis axillaris Trichorrhexis ( Trichorrhexis invaginata Trichorrhexis nodosa ) Trichostasis spinulosa Uncombable hair syndrome Wooly hair nevus Sweat glands Eccrine Miliaria Colloid milium Miliaria crystalline Miliaria profunda Miliaria pustulosa Miliaria rubra Occlusion miliaria Postmiliarial hypohidrosis Granulosis rubra nasi Ross’ syndrome Anhidrosis Hyperhidrosis Generalized Gustatory Palmoplantar Apocrine Body odor Chromhidrosis Fox–Fordyce disease Sebaceous Sebaceous hyperplasia
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Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Omim
Everett et al. (1997) identified SLC26A4 (605646) as the gene mutant in Pendred syndrome (PDS; 274600) in 3 families. The gene maps to 7q31. ... Although this region overlaps the region containing the gene responsible for Pendred syndrome, these patients did not fulfill the criteria for PDS. ... Recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome and for nonsyndromic hearing loss associated with EVA. ... Genotype/Phenotype Correlations Scott et al. (2000) compared 3 common Pendred syndrome allele variants with 3 PDS mutations reported only in individuals with nonsyndromic hearing loss. ... They identified causative mutations in 90% of the typical Pendred syndrome families and in 78.1% of those with sensorineural hearing loss with EVA.
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Tongue Disease
Wikipedia
Hypoglossia - congenitally short tongue Microglossia Macroglossia - an abnormally large tongue, seen in some disorders such as Down syndrome (although macroglossia can be an acquired condition as well). ... The ventral surface (under surface) of the tongue may also be traumatized during oral sexual activity such as cunnilingus (" cunnilingus tongue "). [6] Autoimmune [ edit ] Autoimmune conditions such as Sjögren syndrome can cause xerostomia , with resultant glossitis. Inflammatory [ edit ] Glossitis Oral lichen planus Neurological [ edit ] Hypoglossal nerve weakness can cause atrophy and fasciculation of the tongue. Melkersson–Rosenthal syndrome - a neurological disorder characterized by fissured tongue , facial palsy and orofacial swelling. ... Leukoplakia - can affect the tongue Tongue coating - food debris, desquamated epithelial cells and bacteria often form a visible tongue coating. [7] This coating has been identified as a major contributing factor in bad breath ( halitosis ), [7] which can be managed by brushing the tongue gently with a toothbrush or using special oral hygiene instruments such as tongue scrapers or mouth brushes. [8] Burning mouth syndrome - this chronic pain disorder commonly involves the tongue. In reflection of this, some of the synonyms for the condition include tongue-specific terms such as "glossodynia" or "burning tongue syndrome". Burning mouth syndrome is characterized by chronic burning sensation on the tongue and other oral mucous membranes in the absences of any identifiable signs or causes.
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Renal Tubular Acidosis
Wikipedia
Several different types of RTA exist, which all have different syndromes and different causes. RTA is usually an incidental finding based on routine blood draws that show abnormal results. ... The principal feature of Fanconi syndrome is bone demineralization ( osteomalacia or rickets ) due to phosphate wasting. ... Type 4 RTA is not actually a tubular disorder at all nor does it have a clinical syndrome similar to the other types of RTA described above. ... "Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification". ... External links [ edit ] Classification D ICD - 10 : N25.8 ICD - 9-CM : 588.89 OMIM : 179800 MeSH : D000141 DiseasesDB : 11687 External resources eMedicine : med/1071 v t e Kidney disease Glomerular disease See Template:Glomerular disease Tubules Renal tubular acidosis proximal distal Acute tubular necrosis Genetic Fanconi syndrome Bartter syndrome Gitelman syndrome Liddle's syndrome Interstitium Interstitial nephritis Pyelonephritis Balkan endemic nephropathy Vascular Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis General syndromes Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia Other Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx / pelvis Hydronephrosis Pyonephrosis Reflux nephropathy v t e Acid–base disorders Acidosis Metabolic High anion gap Ketoacidosis Diabetic ketoacidosis Alcoholic ketoacidosis Lactic Normal anion gap Hyperchloremic Renal tubular Respiratory Respiratory Alkalosis Metabolic Contraction alkalosis Respiratory Other Mixed disorder of acid-base balance Acid–base homeostasisSLC4A1, SLC4A4, SLC12A3, FOXI1, ATP6V0A4, CTSB, CYP11B1, ATP6V1B1, CLCNKB, SURF1, NUBPL, KYNU, SCO2, CLDN16, VIPAS39, NDUFAF3, EPG5, COQ2, RMND1, PDSS2, VPS33B, NADK2, NOTCH2, NDUFS2, NDUFB8, CAD, CPT1A, CA2, PDB1, ERBB2, MRGPRF, NT5C1A, CA1, CLCN5, CLCN7, COX16, COX10, EPHA3, ATP6V0A2, BAMBI, SLC26A4, RBFOX2, SLC12A7, NR5A1, GH1, KCNMA1, NR3C2, FGF23, PHA2A, PFKP, PFKM, JAG1
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Megalencephaly
Wikipedia
However, there is no definitive evidence that autism is the primary cause/result of megalencephaly. [ citation needed ] Since most children with megalencephaly also have autism, the goal of treatment for MEG is focused on managing the signs and symptoms associated with autism. [ citation needed ] Other associations [ edit ] Achondroplasia Beckwith–Wiedemann syndrome Neurofibromatosis type 1 (NF1) Tuberous sclerosis (TS) Klippel–Trenaunay–Weber syndrome Epidermal naevus syndrome History [ edit ] It is believed that megalencephaly was discovered in 1972. ... "Mutations in mTOR pathway linked to megalencephaly syndromes". Nature Reviews Neurology . 8. 8 (10): 542–4. doi : 10.1038/nrneurol.2012.178 . PMID 22907262 . ^ a b c d e Mirzaa, G; Riviere, Dobybns (May 2013). "Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP". ... "AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH". Clinical Genetics . 85 (4): 396–398. doi : 10.1111/cge.12188 . ... "De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes" . Nat Genet . 44 (8): 934–40. doi : 10.1038/ng.2331 .
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Biliary Colic
Wikipedia
Rarely, a gallstone can become impacted in the ileocecal valve that joins the caecum and the ileum , causing gallstone ileus (mechanical ileus ). [6] Complications from delayed surgery include pancreatitis, empyema , and perforation of the gallbladder, cholecystitis, cholangitis, and obstructive jaundice. [13] Biliary pain in the absence of gallstones, known as postcholecystectomy syndrome , may severely affect the patient's quality of life, even in the absence of disease progression. [21] Epidemiology [ edit ] The annual risk of developing biliary colic is 2 to 3%. [6] [11] References [ edit ] ^ a b c d e f g h "Gallstones" . ... PMID 23813478 . ^ Postcholecystectomy Syndrome at eMedicine External links [ edit ] Classification D ICD - 10 : K80.5 ICD - 9-CM : 574.20 DiseasesDB : 2533 External resources eMedicine : med/224 Diagram of pain radiation v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum
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Volvulus
Wikipedia
The medical history is helpful in that most cases of inflammatory bowel disease are well known to both patient and doctor. Other rare syndromes, including Ogilvie's syndrome , chronic constipation and impaction may cause a pseudo obstruction. [12] Abdominal x-ray – tire-like shadow arising from right iliac fossa and passing to left Upper GI series Coffee bean sign in a person with sigmoid volvulus CT scan of a small bowel volvulus. ... CT of an abdomen with sigmoid volvulus v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum
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Writer's Cramp
Wikipedia
It may become difficult to find a comfortable position for arms and legs with even the minor exertions associated with holding arms crossed causing significant pain similar to restless leg syndrome. Affected persons may notice trembling in the diaphragm while breathing, or the need to place hands in pockets, under legs while sitting or under pillows while sleeping to keep them still and to reduce pain. ... Joaquin Farias has shown that proprioceptive stimulation can induce neuroplasticity , making it possible for patients to recover substantial function that was lost from focal dystonia. [12] Anticholinergics such as Artane can be prescribed for off-label use, as some sufferers have had success. [13] See also [ edit ] Carpal tunnel syndrome Dystonia Focal dystonia Stuttering References [ edit ] ^ Pearce, J. ... The Canadian Movement Disorder group. http://cmdg.org/Dystonia/dystonia.htm External links [ edit ] Classification D ICD - 10 : F48.8 , G25.8 ICD - 9-CM : 300.89 , 333.84 External resources Patient UK : Writer's cramp v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis v t e Mental and behavioral disorders Adult personality and behavior Gender dysphoria Ego-dystonic sexual orientation Paraphilia Fetishism Voyeurism Sexual maturation disorder Sexual relationship disorder Other Factitious disorder Munchausen syndrome Intermittent explosive disorder Dermatillomania Kleptomania Pyromania Trichotillomania Personality disorder Childhood and learning Emotional and behavioral ADHD Conduct disorder ODD Emotional and behavioral disorders Separation anxiety disorder Movement disorders Stereotypic Social functioning DAD RAD Selective mutism Speech Stuttering Cluttering Tic disorder Tourette syndrome Intellectual disability X-linked intellectual disability Lujan–Fryns syndrome Psychological development ( developmental disabilities ) Pervasive Specific Mood (affective) Bipolar Bipolar I Bipolar II Bipolar NOS Cyclothymia Depression Atypical depression Dysthymia Major depressive disorder Melancholic depression Seasonal affective disorder Mania Neurological and symptomatic Autism spectrum Autism Asperger syndrome High-functioning autism PDD-NOS Savant syndrome Dementia AIDS dementia complex Alzheimer's disease Creutzfeldt–Jakob disease Frontotemporal dementia Huntington's disease Mild cognitive impairment Parkinson's disease Pick's disease Sundowning Vascular dementia Wandering Other Delirium Organic brain syndrome Post-concussion syndrome Neurotic , stress -related and somatoform Adjustment Adjustment disorder with depressed mood Anxiety Phobia Agoraphobia Social anxiety Social phobia Anthropophobia Specific social phobia Specific phobia Claustrophobia Other Generalized anxiety disorder OCD Panic attack Panic disorder Stress Acute stress reaction PTSD Dissociative Depersonalization disorder Dissociative identity disorder Fugue state Psychogenic amnesia Somatic symptom Body dysmorphic disorder Conversion disorder Ganser syndrome Globus pharyngis Psychogenic non-epileptic seizures False pregnancy Hypochondriasis Mass psychogenic illness Nosophobia Psychogenic pain Somatization disorder Physiological and physical behavior Eating Anorexia nervosa Bulimia nervosa Rumination syndrome Other specified feeding or eating disorder Nonorganic sleep Hypersomnia Insomnia Parasomnia Night terror Nightmare REM sleep behavior disorder Postnatal Postpartum depression Postpartum psychosis Sexual dysfunction Arousal Erectile dysfunction Female sexual arousal disorder Desire Hypersexuality Hypoactive sexual desire disorder Orgasm Anorgasmia Delayed ejaculation Premature ejaculation Sexual anhedonia Pain Nonorganic dyspareunia Nonorganic vaginismus Psychoactive substances, substance abuse and substance-related Drug overdose Intoxication Physical dependence Rebound effect Stimulant psychosis Substance dependence Withdrawal Schizophrenia , schizotypal and delusional Delusional Delusional disorder Folie à deux Psychosis and schizophrenia-like Brief reactive psychosis Schizoaffective disorder Schizophreniform disorder Schizophrenia Childhood schizophrenia Disorganized (hebephrenic) schizophrenia Paranoid schizophrenia Pseudoneurotic schizophrenia Simple-type schizophrenia Other Catatonia Symptoms and uncategorized Impulse control disorder Klüver–Bucy syndrome Psychomotor agitation Stereotypy 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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Chst3-Related Skeletal Dysplasia
Gene_reviews
Nomenclature In 1950, Dr LJ Larsen described autosomal dominant Larsen syndrome, now known to be caused by pathogenic variants in FLNB , the gene encoding filamin B [Bicknell et al 2007]. Larsen syndrome is characterized by multiple joint dislocations, dysmorphic facial features, spatulate thumbs, and accelerated carpal ossification (see FLNB -Related Disorders). Following the delineation of autosomal dominant Larsen syndrome, several reports of "autosomal recessive Larsen syndrome" and other similar disorders were published. ... However, an argument could also be made for retaining the name "autosomal recessive Larsen syndrome," as the joint dislocations are the presenting feature and "Larsen syndrome" is usually the first diagnosis considered; thus, the continued use of this designation is open to debate. ... The La Reunion variant of recessive Larsen syndrome is caused by a specific B4GALT7 pathogenic variant [Cartault et al 2015].
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Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, And Gingival Overgrowth Syndrome
Omim
A number sign (#) is used with this entry because of evidence that facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome (FHEIG) is caused by heterozygous mutation in the KCNK4 gene (605720) on chromosome 11q13. Clinical Features Bauer et al. (2018) reported 3 unrelated children, aged 11 months, 5 years, and 8 years, with a similar neurodevelopmental syndrome identified through genetic research programs and GeneMatcher.
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Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Omim
A number sign (#) is used with this entry because thiamine metabolism dysfunction syndrome-4 (THMD4), also known as bilateral striatal degeneration and progressive polyneuropathy, is caused by homozygous mutation in the SLC25A19 gene (606521) on chromosome 17q25. ... Description Thiamine metabolism dysfunction syndrome-4 is an autosomal recessive metabolic disorder characterized by childhood onset of episodic encephalopathy, often associated with a febrile illness, and causing transient neurologic dysfunction.
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Immune-Mediated Thrombotic Thrombocytopenic Purpura
Orphanet
Immune-mediated TTP is usually idiopathic but rarely may occur in association with a connective tissue disease (mostly systemic lupus erythematosus and Sjögren's syndrome), infections (typically HIV infection), or after ticlopidine intake. ... Differential diagnosis The main differential diagnoses are congenital TTP and atypical hemolytic uremic syndrome as well as antiphospholipid syndrome, Evans syndrome, disseminated intravascular coagulation, cobalamin deficiency and, in pregnant patients, HELLP syndrome.
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Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Orphanet
Other manifestations include emotional incontinence, personality changes (lability and irritability), disorientation to time and eventually apallic syndrome. In advanced stages emotional incontinence, abulia and akinetic mutism develop. ... MRI findings are similar to those seen in CADASIL syndrome (see this term) including symmetrical distribution of white matter hypersensitivities. ... Differential diagnosis Differential diagnoses include primary angiitis of the central nervous system, Binswanger disease, CADASIL, Nasu-Hakola disease, chronic progressive multiple sclerosis and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (see these terms). As Hutchinson-Gilford progeria syndrome and Werner syndrome (see these terms) also feature premature baldness and arteriosclerosis, they must also be excluded. ... Management and treatment There is no cure for CARASIL syndrome. Emotional support and counseling for patients and their families is recommended.
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Familial Adenomatous Polyposis
Orphanet
Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back) are indicative of the Gardner syndrome, whereas the association of FAP and medulloblastoma is referred to as the Turcot syndrome (see these terms). ... Differential diagnosis Differential diagnoses include other disorders causing multiple polyps (Peutz-Jeghers syndrome, familial juvenile polyposis or hyperplastic polyposis, hereditary mixed polyposis syndrome, and Lynch syndrome; see these terms).APC, MUTYH, TTR, PTGS2, MCC, EGFR, NTHL1, MSH3, FMO3, GREM1, AKT1, CYP26A1, CD44, LRG1, SOD2, F5, ITIH4, FAP, MSH2, BRAF, CDH1, HPGDS, CCND1, APC2, KRAS, CDKN2A, COX2, TP53, MTCO2P12, AXIN1, GSTP1, MLH1, GSK3B, RASSF1, CTNNB1, AXIN2, DCC, PIK3CA, MYC, HNF4A, ACTB, BRCA2, PLA2G2A, MGMT, REEP5, ESR1, SMAD4, ODC1, MRC1, TCF4, BRCA1, MSH6, PTCH1, ATM, TCF7L2, MAPRE1, CCDC6, LEF1, ARHGEF4, PIK3CB, PIK3CD, PIK3CG, CDX2, PLA2G1B, TNKS, RET, RARB, TBC1D9, MKI67, TAS2R38, AFAP1, DLD, F9, CHEK2, PDIK1L, WIF1, PPARG, SFRP1, ABCB1, PKHD1, MIR155, PMS2, CEACAM5, PTEN, PALB2, CDC73, MIB1, PLB1, DNMT1, MSI1, F2R, CXCL8, ESR2, GLB1, AMER1, TCHP, H3P10, POLB, AR, RUNX3, POLD1, CALR, MIR135B, SST, CDKN2B, MAPK8, PITX2, YWHAZ, TGFB1, OGG1, SPATA13, XPNPEP1, TNF, SHOX2, VEGFA, ILK, SGK1, IL22, IL10, NUDT1, SIAH1, IL6ST, PLA2G6, S100A9, IL6, TRIM21, STAT3, HRAS, XPO1, FBXW7, SGSM3, PHGDH, BTRC, MMP7, MUC1, NF1, NOTCH1, COX1, PRKN, PCNA, CTNNBIP1, YAP1, PLG, NR3C2, MLH3, POLE, PPP1R1A, PRKAR1A, PROC, KLF4, ARHGEF2, MTHFR, DNAJA3, NAT2, SLC2A4RG, VHL, MIR143, FEN1, MTOR, CASP3, AMER3, CAV1, APOA1, GAST, BMPR1A, MIR27A, CSF2, FOXO1, BLM, GSN, PARP1, B2M, CDH13, BCL2, BAX, MIR582, AFP, APBA2, MIR663A, LATS1, MBD2, MIR494, MIR501, MIR20B, COX7A2L, EIF2S2, AURKB, MIR17HG, MIR552, IQGAP1, PRC1, GPRC5A, NORAD, XPR1, TNFRSF10B, MIR31, MIR17, CDK2AP2, OLIG2, LRPPRC, MIR19A, MIR204, MIR205, MIR21, ABCB6, MIR210, MIR214, BCL2L11, NR1H4, RB1CC1, MIR223, SMAD5-AS1, PTGES, MIR26B, ROCK2, PLAA, KIF3B, TNFRSF10A, ANKS1B, ADAM23, IFNG-AS1, LINC01133, MICA, USP7, SCLC1, FZD5, CXCR4, LEPQTL1, KLRC4-KLRK1, MIA-RAB4B, SNORD138, PLA2G7, WT1, WNT11, WNT10B, WNT5A, H3P8, WNT2, WNT1, VTN, VIP, MIR1229, FZD3, TNFSF9, CARMN, IRS2, NDC80, JRK, MUC5B, RUVBL1, LGR5, YBX3, NR0B2, PLA2G10, MAD1L1, MIR1249, POTEF, FZD7, FZD1, HOTAIR, CD24, ARID1A, MFT2, MIA, FOSL1, SOCS1, MIR122, MIR142, FOXP1, WNK1, SLC25A24, GPSM2, HIPK2, MAGEH1, LAMTOR2, DLL1, MUL1, GALNT12, DKK3, SND1, MFSD2A, AAGAB, LATS2, COL18A1, SNED1, IL17RA, VANGL1, CADM1, TMEFF2, MKRN1, REG4, RAPH1, SCHIP1, GORASP1, ANAPC1, CHFR, SYBU, LRRC59, PRX, RMDN3, IL21, TESC, UGT1A3, SLC25A19, KRT20, NLK, SF3B6, MED15, LARS1, ANAPC5, UBR5, RMDN1, SAV1, TNMD, NOD2, RHBDF1, ZBED3, ATAD1, MIR126, ZC3H12D, TMEM9, ANXA10, HCA1, CISD3, SLC9C2, SLC9A9, KIF3A, RPP14, ENPP7, MAPRE2, SUB1, SMUG1, LILRB1, NES, FMN1, GEN1, MALAT1, LINC01194, MIR106A, MIR106B, OLFM4, KIDINS220, AMER2, KLRK1, MAPRE3, RPIA, SCRIB, WNT3A, HEY2, FBXW11, SLC25A21, SCGB3A1, CLASP2, NLRP3, CYGB, LYPD1, MISP, RMDN2, PALLD, PPM1L, PAQR3, CBLL2, SPEN, B3GNT6, ARID2, DKK1, C9orf72, PSAT1, NAT1, VASP, USF2, FSHMD1A, FOS, FMR1, FLT4, FHIT, FER, FAT1, FANCB, ERBB4, ERBB2, EPO, EPHB4, EPHB3, EPHB2, EMP2, ELAVL2, EIF2S3, EIF2S1, EEF1G, DVL2, DNMT3B, DNMT3A, DMBT1, DLG4, DIO2, DEFB1, DAPK1, FUSE, FUT4, FZD2, HDAC2, IFNA13, IFNA1, IAPP, HSP90AA1, HSPA5, HSF1, HPGD, HOXA10, HMGA1, HLA-C, HLA-A, HIF1A, H2AX, GCG, GUSB, GUCY2C, GTF2H3, GSTZ1, GSTT1, GSTM1, GSTA1, GSS, NR3C1, GRIN2A, GHR, GFAP, CD55, DAB2, CYP2A7, APOE, RUNX2, CASP1, TSPO, BMI1, BID, CEACAM1, BGN, BCL9, BAAT, ATP2A3, KLK3, APOH, BIRC5, CBS, APBA1, ANXA5, ALPP, ALOX15, ALK, ALDH1A3, ALCAM, ALB, AIF1, NR0B1, AGER, ADH1C, CBR1, CCNB1, CYLD, CLC, CTSE, CTNND1, CTBP1, CSNK2B, CSNK2A2, CSF2RB, KLF6, COL11A1, COL4A2, COL2A1, CNTN1, CLU, CHUK, CCNE1, CHRM3, CHEK1, CEBPB, CDKN1A, CDK4, CDH10, CDH7, CDC42, CDK1, CD36, CCT, CCNH, IFNG, IGF2, IHH, RELA, SLC12A3, SLC5A5, SLC2A1, SFRP5, SFRP2, CCL2, ATXN2, ATXN1, RSU1, RPS20, RPE, RLBP1, RDH5, HLTF, RBP4, RASGRF1, RARRES1, RAN, RAC1, PTGS1, PTGER3, PTGDR, PSMD10, PYY, PSG9, PRSS1, SLCO2A1, SMPD1, MAPK3, TFAP2A, USF1, UPK1B, ZRSR2P1, TSC1, TRAF1, TSPAN4, TLR4, TIMP1, TGFBR2, TFF3, TFF1, TFDP1, TERT, SOAT1, PRDX2, ZEB1, TAC1, SYT1, STRN, STK11, STAT6, STAT1, SRP19, SP1, SOX9, SOS1, PROS1, PRKDC, IL1RN, LNPEP, MMP9, MMP3, MMP1, MET, MEN1, MDM2, MAPT, SMAD3, MXD1, LRP5, LRP6, LOX, LGALS4, MPZ, LEP, LDLR, LCT, LCN2, KIT, KIF2A, KDR, KCNH2, CD82, IRF1, TNFRSF9, IL15, MMP14, ABCC1, PRKAB1, PDGFA, PRKAA2, PRKAA1, PPARD, PMS1, PMP22, PLK1, PLEK, PLCG2, PLA2G4A, PKD2, PECAM1, PDGFB, PAX6, COX3, SERPINE1, PAFAH1B1, ORM1, NTF3, NRAS, NOS2, NME1, NM, NGF, NF2, NELL1, MUC6, RB1
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Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Omim
A number sign (#) is used with this entry because of evidence that mitochondrial DNA depletion syndrome-15 (MTDPS15) is caused by homozygous mutation in the TFAM gene (600438) on chromosome 10q21. ... For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). Clinical Features Stiles et al. (2016) reported 2 sibs, born of consanguineous parents of Colombian-Basque origin, with onset of severe progressive liver disease soon after birth and resulting in death at ages 2 and 4 months, respectively.
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Hydrocolpos
Wikipedia
In some cases, it is associated with Bardet-Biedl Syndrome. [1] If it occurs in prepubertal girls, it may show up as abdominal swelling. ... A high index of suspicion for hydrocolpos in a newborn presenting with fetal diagnosis of infraumbilical abdominal mass will facilitate timely intervention and prevention of complications. [2] References [ edit ] ^ "Bardet-Biedl Syndrome - NORD (National Organization for Rare Disorders)" . ... You can help Wikipedia by expanding it . v t e v t e Vaginal anatomy Development throughout the life span Embryology Secondary sex characteristics Menopause Support structures Ligament Muscles tendons fascia Tissues Vaginal epithelium Vaginal cytology Vaginal artery Vaginal venous plexus Vaginal microbiota List of bacterial vaginosis microbiota Vaginal microbiota Vaginal microbiota in pregnancy List of microbiotic species in the vagina Congenital vaginal defects Imperforate hymen WNT4 deficiency Vaginal adenosis Cloacal exstrophy Vaginal agenesis Vaginal hypoplasia Vaginal atresia Congenital vaginal fistula Persistent cloaca Urogenital sinus Hydrocolpos Hematocolpos Surgical and Radiological treatments Hymenectomy Vaginoplasty Vaginectomy Radical hysterectomy Vaginal cuff Vaginal brachytherapy Culdoscopy Culdocentesis Episiotomy Colpocleisis Hymenorrhaphy Radical cystectomy Acquired and structural pathologies cystocele Pelvic organ prolapse Vaginal stenosis Vaginal discharge Atrophic vaginitis Infections Sexually transmitted infections Vaginal yeast infections Malignant growths vaginal cancer Benign growths vaginal fibroids v t e Female diseases of the pelvis and genitals Internal Adnexa Ovary Endometriosis of ovary Female infertility Anovulation Poor ovarian reserve Mittelschmerz Oophoritis Ovarian apoplexy Ovarian cyst Corpus luteum cyst Follicular cyst of ovary Theca lutein cyst Ovarian hyperstimulation syndrome Ovarian torsion Fallopian tube Female infertility Fallopian tube obstruction Hematosalpinx Hydrosalpinx Salpingitis Uterus Endometrium Asherman's syndrome Dysfunctional uterine bleeding Endometrial hyperplasia Endometrial polyp Endometriosis Endometritis Menstruation Flow Amenorrhoea Hypomenorrhea Oligomenorrhea Pain Dysmenorrhea PMS Timing Menometrorrhagia Menorrhagia Metrorrhagia Female infertility Recurrent miscarriage Myometrium Adenomyosis Parametrium Parametritis Cervix Cervical dysplasia Cervical incompetence Cervical polyp Cervicitis Female infertility Cervical stenosis Nabothian cyst General Hematometra / Pyometra Retroverted uterus Vagina Hematocolpos / Hydrocolpos Leukorrhea / Vaginal discharge Vaginitis Atrophic vaginitis Bacterial vaginosis Candidal vulvovaginitis Hydrocolpos Sexual dysfunction Dyspareunia Hypoactive sexual desire disorder Sexual arousal disorder Vaginismus Urogenital fistulas Ureterovaginal Vesicovaginal Obstetric fistula Rectovaginal fistula Prolapse Cystocele Enterocele Rectocele Sigmoidocele Urethrocele Vaginal bleeding Postcoital bleeding Other / general Pelvic congestion syndrome Pelvic inflammatory disease External Vulva Bartholin's cyst Kraurosis vulvae Vestibular papillomatosis Vulvitis Vulvodynia Clitoral hood or clitoris Persistent genital arousal disorder
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Trichohepatoneurodevelopmental Syndrome
Omim
A number sign (#) is used with this entry because of evidence that trichohepatoneurodevelopmental syndrome (THNS) is caused by homozygous or compound heterozygous mutation in the CCDC47 gene (618260) on chromosome 17q23. Description Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and severe global developmental delay (Morimoto et al., 2018).
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Al-Gazali-Bakalinova Syndrome
Omim
A number sign (#) is used with this entry because of evidence that Al-Gazali-Bakalinova syndrome (AGBK) is caused by homozygous mutation in the KIF7 gene (611254) on chromosome 15q26. ... Karaer et al. (2012) described what they considered to be the second report of this disorder, which they called Al-Gazali-Bakalinova syndrome, in a macrocephalic male, born to consanguineous parents, with facial anomalies, cranial MRI findings, and multiple epiphyseal dysplasia.