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Pectus Carinatum
Gard
Pectus carinatum can also be associated with a variety of genetic disorders and syndromes, including Marfan syndrome , Noonan syndrome , Morquio syndrome , homocystinuria , osteogenesis imperfecta , Coffin-Lowery syndrome , cardiofaciocutaneous syndrome , and certain chromosome abnormalities.MARS2, SOX5, TRPS1, MAN1B1, HYOU1, DNAJC21, ZEB2, PLAA, TRIP11, TNFRSF11A, MBTPS1, LZTR1, MFAP5, PCGF2, WNT7A, WNT5A, TNNT1, MRAS, THRB, TGFBR2, TGFBR1, TGFB3, VPS37A, TBX3, TBX2, TBCD, VAMP1, SRP54, ACTB, SOS2, SOS1, B4GALT7, ZNF292, SMS, NXN, SP7, PIGS, G6PC3, GORAB, GNPTG, RNF135, RAB33B, SLC2A10, EFL1, UPF3B, VPS33A, GZF1, SIL1, NSD1, TGDS, PIEZO2, FKBP10, SLC5A7, TRPV4, ATAD3A, DYM, INPP5K, MBTPS2, SBDS, ZDHHC9, COG4, RAB3GAP2, KAT6B, SNAP25, SLC25A1, EVC2, SLC18A3, GLI3, FZD2, FLNB, FGF14, FBN1, EVC, NALCN, MEGF8, DVL3, DVL1, CREBBP, COL13A1, COL11A2, COL6A1, COL5A2, COL5A1, COL2A1, COL1A1, CHRM3, CHAT, CBS, BRAF, BMP2, BGN, KIF7, ATRX, ATP7A, AGRN, AGA, GUSB, HBA1, HBA2, HNRNPH2, SKI, A2ML1, RRAS, RPS6KA3, RMRP, RIT1, RASA2, RAF1, PYCR1, PTPN11, PPP1CB, PPIB, PLOD2, ORC1, TNFRSF11B, ROR2, NRAS, NOTCH2, NEU1, MYO9A, MME, MAN2B1, SMAD3, KRAS, IHH, HSPG2, HRAS, SYT2, CDAN1, ACOX1, AKR1A1, TCOF1, SCP2, PTHLH, ELAVL2, AVP, ARSD, MIR15A
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Painful Legs And Moving Toes Syndrome
Gard
Painful legs and moving toes (PLMT) syndrome is an adult-onset, rare disorder characterized by pain in the feet or legs and twisting movements of one or more toes. The patients usually seek medical attention because of the pain. The syndrome may be unilateral or bilateral. ... Treatment is often unsatisfactory and may include medication for neuropathic pain ( gabapentin ), spinal blocks , spinal cord stimulation , and local injection of botulinum toxin . It is a debilitating clinical syndrome, not because of the movements but rather because of the pain.
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1p21.3 Microdeletion Syndrome
Orphanet
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term). ... Clinical description 1p21.3 microdeletion syndrome is characterized by severe speech and language delay, a borderline-mild to mild-moderate intellectual deficiency, autism spectrum disorder (see this term) features, and minor dysmorphic facial features such as long ears, deep set eyes, a broad nasal tip and a thick lower lip. Affected individuals have normal gross motor development without major abnormalities, they are often very shy and friendly with a tendency to overeat. Etiology 1p21.3 microdeletion syndrome is caused by a hemizygous interstitial microdeletion on the short arm of chromosome 1, occurring mostly de novo , that implicates DPYD (dihydropyrimidine dehydrogenase) and MIR137 genes associated with miRNA pathways.
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Limb Girdle Syndrome
Wikipedia
Please help improve this article by introducing citations to additional sources. Find sources: "Limb girdle syndrome" – news · newspapers · books · scholar · JSTOR ( October 2010 ) Limb girdle syndrome is a term to describe several distinct medical conditions including polymyositis , myopathy associated with endocrine disease , metabolic myopathy , drug-induced myopathy and limb-girdle muscular dystrophy . Limb girdle syndrome is weakness located and concentrated around the proximal limb muscles.
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Usher Syndrome Type 2a
Gard
Usher syndrome type 2A is a genetic condition characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. ... The degree of hearing loss varies within and among families with this condition. Unlike other forms of Usher syndrome, people with type 2A do not have difficulties with balance caused by inner ear problems. Usher syndrome type 2A is caused by mutations the USH2A gene and is inherited in an autosomal recessive manner.
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Laron Syndrome With Immunodeficiency
Orphanet
This syndrome is characterized by severe growth retardation associated with immunodeficiency. ... Clinical description The patients present typical clinical and biochemical features of Laron syndrome such as post-natal growth retardation, delayed bone age and facial dysmorphism (prominent forehead, hypoplastic nasal bridge), and low serum IGF-1 concentrations with normal or high GH concentrations. ... Severe chronic lung disease, chronic diarrhea, juvenile idiopathic arthritis (see these terms), generalized eczema, pulmonary infections and respiratory distress have already been described. Etiology The syndrome is due to mutation in the signal transducer and activator of transcription 5b gene ( STAT5b ).
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Atrioventricular Reentrant Tachycardia
Wikipedia
AVRT is most commonly associated with Wolff–Parkinson–White syndrome , but is also seen in permanent junctional reentrant tachycardia (PJRT) . ... Between episodes of tachycardia the affected person is likely to be asymptomatic; however, the ECG would demonstrate the classic delta wave in Wolff–Parkinson–White syndrome . [2] Pathophysiology [ edit ] Mechanism of AVRT compared with other supraventricular arrhythmias Two distinct pathways are involved: the normal atrioventricular conduction system, and an accessory pathway. ... See also [ edit ] AV nodal reentrant tachycardia Electrical conduction system of the heart Wolff-Parkinson-White syndrome Permanent junctional reentrant tachycardia (PJRT) References [ edit ] ^ Josephson ME. Preexcitation syndromes. In: Clinical Cardiac Electrophysiology, 4th, Lippincott Williams & Wilkins, Philadelphia 2008. p.339 ^ Hampton J. ... External links [ edit ] Classification D ICD - 10 : I47.1 ICD - 9-CM : 427.89 , 427.0 MeSH : D013617 v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever
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Baggio–yoshinari Syndrome
Wikipedia
Please help improve it to make it understandable to non-experts , without removing the technical details. ( July 2015 ) ( Learn how and when to remove this template message ) Baggio–Yoshinari syndrome Other names BYS Specialty Infectious disease The Baggio–Yoshinari syndrome , formerly known as the Brazilian Lyme-like disease and Brazilian human borreliosis , is a disease transmitted by the Amblyomma cajennense tick, but the organism that causes the infection is still unknown. [1] Clinical features resemble those of Lyme disease (LD). [2] Contents 1 Presentation 2 Diagnosis 3 History 4 References Presentation [ edit ] A distinct feature of the syndrome is its prolonged clinical evolution, with relapsing episodes and autoimmune dysfunction . ... For these reasons, the Brazilian zoonosis was considered a new disease and named Baggio–Yoshinari Syndrome (BYS), defined as: "Exotic and emerging Brazilian infectious disease, transmitted by ticks not belonging to the Ixodes ricinus complex, caused by latent spirochetes with atypical morphology, which originates LD-like symptoms, except for occurrence of relapsing episodes and auto-immune disorders". [4] References [ edit ] ^ a b c d e Revista Brasileira de Reumatologia, vol.49 no.5, São Paulo, Sept./Oct. 2009: Neurological manifestations in Baggio-Yoshinari Syndrome (Brazilian Lyme-like disease syndrome) ^ a b Revista Brasileira de Reumatologia, Vol.54, Issue 2, March–April 2014, Pages 148–151. Chronic lymphomonocytic meningoencephalitis, oligoarthritis and erythema nodosum: report of Baggio-Yoshinari syndrome of long and relapsing evolution ^ Revista Brasileira de Pesquisas Médicas e Biológicas vol.40 no.4 Ribeirão Preto Apr. 2007: Description of Lyme disease-like syndrome in Brazil. ... ^ a b Revista da Associação Médica Brasileira vol.56 no.3 São Paulo, 2010: Brazilian Lyme-like disease or Baggio-Yoshinari syndrome: exotic and emerging Brazilian tick-borne zoonosis v t e Tick-borne diseases and infestations Diseases Bacterial infections Rickettsiales Anaplasmosis Boutonneuse fever Ehrlichiosis ( Human granulocytic , Human monocytotropic , Human E. ewingii infection ) Scrub typhus Spotted fever rickettsiosis Pacific Coast tick fever American tick bite fever rickettsialpox Rocky Mountain spotted fever ) Spirochaete Baggio–Yoshinari syndrome Lyme disease Relapsing fever borreliosis Thiotrichales Tularemia Viral infections Bhanja virus Bourbon virus Colorado tick fever Crimean–Congo hemorrhagic fever Heartland bandavirus Kemerovo tickborne viral fever Kyasanur Forest disease Omsk hemorrhagic fever Powassan encephalitis Severe fever with thrombocytopenia syndrome Tete orthobunyavirus Tick-borne encephalitis Protozoan infections Babesiosis Other diseases Tick paralysis Alpha-gal allergy Southern tick-associated rash illness Infestations Tick infestation Species and bites Amblyomma Amblyomma americanum Amblyomma cajennense Amblyomma triguttatum Dermacentor Dermacentor andersoni Dermacentor variabilis Ixodes Ixodes cornuatus Ixodes holocyclus Ixodes pacificus Ixodes ricinus Ixodes scapularis Ornithodoros Ornithodoros gurneyi Ornithodoros hermsi Ornithodoros moubata Other Rhipicephalus sanguineus
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Monofixation Syndrome
Wikipedia
Monofixation syndrome Other names Microtropia, microstrabismus Specialty Ophthalmology Monofixation syndrome ( MFS ) (also: microtropia or microstrabismus ) is an eye condition defined by less-than-perfect binocular vision . [1] It is defined by a small angle deviation with suppression of the deviated eye and the presence of binocular peripheral fusion. [2] That is, MFS implies peripheral fusion without central fusion. ... It is believed that primary MFS is a result of a primary sensorial defect, predisposing to anomalous retinal correspondence . [4] Secondary MFS is a frequent outcome of surgical treatment of congenital esotropia . [2] A study of 1981 showed MFS to result in the vast majority of cases if surgical alignment is reached before the age of 24 months and only in a minority of cases if it is reached later. [5] MFS was first described by Marshall Parks . [3] References [ edit ] ^ "Monofixation Syndrome: eMedicine Ophthalmology" . 2017-01-07. ... External links [ edit ] Classification D ICD - 10 : H50.4 ICD - 9-CM : 378.34 DiseasesDB : 33536 External resources eMedicine : article/1199953 v t e Diseases of the human eye Adnexa Eyelid Inflammation Stye Chalazion Blepharitis Entropion Ectropion Lagophthalmos Blepharochalasis Ptosis Blepharophimosis Xanthelasma Ankyloblepharon Eyelash Trichiasis Madarosis Lacrimal apparatus Dacryoadenitis Epiphora Dacryocystitis Xerophthalmia Orbit Exophthalmos Enophthalmos Orbital cellulitis Orbital lymphoma Periorbital cellulitis Conjunctiva Conjunctivitis allergic Pterygium Pseudopterygium Pinguecula Subconjunctival hemorrhage Globe Fibrous tunic Sclera Scleritis Episcleritis Cornea Keratitis herpetic acanthamoebic fungal Exposure Photokeratitis Corneal ulcer Thygeson's superficial punctate keratopathy Corneal dystrophy Fuchs' Meesmann Corneal ectasia Keratoconus Pellucid marginal degeneration Keratoglobus Terrien's marginal degeneration Post-LASIK ectasia Keratoconjunctivitis sicca Corneal opacity Corneal neovascularization Kayser–Fleischer ring Haab's striae Arcus senilis Band keratopathy Vascular tunic Iris Ciliary body Uveitis Intermediate uveitis Hyphema Rubeosis iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Lens Cataract Congenital cataract Childhood cataract Aphakia Ectopia lentis Retina Retinitis Chorioretinitis Cytomegalovirus retinitis Retinal detachment Retinoschisis Ocular ischemic syndrome / Central retinal vein occlusion Central retinal artery occlusion Branch retinal artery occlusion Retinopathy diabetic hypertensive Purtscher's of prematurity Bietti's crystalline dystrophy Coats' disease Sickle cell Macular degeneration Retinitis pigmentosa Retinal haemorrhage Central serous retinopathy Macular edema Epiretinal membrane (Macular pucker) Vitelliform macular dystrophy Leber's congenital amaurosis Birdshot chorioretinopathy Other Glaucoma / Ocular hypertension / Primary juvenile glaucoma Floater Leber's hereditary optic neuropathy Red eye Globe rupture Keratomycosis Phthisis bulbi Persistent fetal vasculature / Persistent hyperplastic primary vitreous Persistent tunica vasculosa lentis Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc Optic neuritis optic papillitis Papilledema Foster Kennedy syndrome Optic atrophy Optic disc drusen Optic neuropathy Ischemic anterior (AION) posterior (PION) Kjer's Leber's hereditary Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns–Sayre syndrome palsies Oculomotor (III) Fourth-nerve (IV) Sixth-nerve (VI) Other strabismus Esotropia / Exotropia Hypertropia Heterophoria Esophoria Exophoria Cyclotropia Brown's syndrome Duane syndrome Other binocular Conjugate gaze palsy Convergence insufficiency Internuclear ophthalmoplegia One and a half syndrome Refraction Refractive error Hyperopia Myopia Astigmatism Anisometropia / Aniseikonia Presbyopia Vision disorders Blindness Amblyopia Leber's congenital amaurosis Diplopia Scotoma Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Anopsia Hemianopsia binasal bitemporal homonymous Quadrantanopia subjective Asthenopia Hemeralopia Photophobia Scintillating scotoma Pupil Anisocoria Argyll Robertson pupil Marcus Gunn pupil Adie syndrome Miosis Mydriasis Cycloplegia Parinaud's syndrome Other Nystagmus Childhood blindness Infections Trachoma Onchocerciasis
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Cushing Ulcer
Wikipedia
It is also called von Rokitansky –Cushing syndrome. [2] Apart from the stomach , ulcers may also develop in the proximal duodenum and distal esophagus . ... External links [ edit ] Classification D DiseasesDB : 3259 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 This article about a disease , disorder, or medical condition is a stub .
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Androgen-Dependent Condition
Wikipedia
An androgen-dependent condition , disease , disorder , or syndrome , is a medical condition that is, in part or full, dependent on, or is sensitive to, the presence of androgenic activity in the body. Known androgen-dependent conditions include acne , [1] seborrhea , [2] [3] [4] androgenic alopecia , [5] hirsutism , [6] hidradenitis suppurativa , [7] precocious puberty in boys, [8] hypersexuality , [9] paraphilias , [10] benign prostatic hyperplasia (BPH), [11] prostate cancer , [12] and hyperandrogenism in women such as in polycystic ovary syndrome (PCOS). [13] [14] Such conditions may be treated with drugs with antiandrogen actions, including androgen receptor antagonists such as cyproterone acetate , spironolactone , and bicalutamide , 5α-reductase inhibitors such as finasteride and dutasteride , CYP17A1 inhibitors such as abiraterone acetate , gonadotropin-releasing hormone (GnRH) analogues such as leuprorelin and cetrorelix , and/or other antigonadotropins such as megestrol acetate and medroxyprogesterone acetate . [15] [16] See also [ edit ] Androgen deprivation therapy Androgen insensitivity syndrome Estrogen-dependent condition Spinal bulbar muscular atrophy References [ edit ] ^ Joseph E. ... Legro (12 January 2008). Polycystic Ovary Syndrome: Current Controversies, from the Ovary to the Pancreas . ... ISSN 2047-2919 . v t e Gonadal disorder Ovarian Polycystic ovary syndrome Premature ovarian failure Estrogen insensitivity syndrome Hyperthecosis Testicular Enzymatic 5α-reductase deficiency 17β-hydroxysteroid dehydrogenase deficiency aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Familial male-limited precocious puberty Partial androgen insensitivity syndrome Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Complete androgen insensitivity syndrome Mild androgen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism This article about an endocrine, nutritional, or metabolic disease is a stub .
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Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Orphanet
A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.
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Craniosynostosis-Intracranial Calcifications Syndrome
Orphanet
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia.
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Neonatal Antiphospholipid Syndrome
Orphanet
Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations.
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Distal 17p13.1 Microdeletion Syndrome
Orphanet
Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
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Branchiogenic Deafness Syndrome
Orphanet
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability.
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Ectodermal Dysplasia-Syndactyly Syndrome
Orphanet
Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.
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Proud Syndrome
Gard
Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum , seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner.
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Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Orphanet
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles.
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Ichthyosis-Hypotrichosis Syndrome
Orphanet
Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase.