{"orpha":2053,"name":"Freeman-Sheldon syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Craniocarpotarsal dysplasia","Craniocarpotarsal dystrophy","Distal arthrogryposis type 2A","Freeman-Burian syndrome","Whistling face syndrome"],"definition":"A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2053/","orphanet_url":"https://www.orpha.net/en/disease/detail/2053","names":{"fr":{"name":"Syndrome de Freeman-Sheldon","synonyms":["Arthrogrypose distale type 2A","Syndrome cranio-carpo-tarsien","Syndrome de Freeman-Burian","Syndrome de la face du siffleur"],"definition":"Syndrome d'arthogrypose distale congénitale caractérisé par une microstomie, l'aspect dit siffleur de la face, un menton avec des fossettes en forme de H ou V, des plis nasogéniens très évidents ; la plupart des patients présentent un pied bot et des contractures articulaires congénitales des mains et des pieds. Il s'agit de la forme la plus grave d'arthrogrypose distale."},"de":{"name":"Freeman-Sheldon-Syndrom","synonyms":["Arthrogrypose, distale, Typ 2A","Freeman-Burian-Syndrom","Kraniokarpotarsale Dysplasie","Kraniokarpotarsale Dystrophie","Whistling-face-Syndrom"],"definition":"Ein angeborenes distales Arthogryposesyndrom mit Mikrostomie, charakteristischem Gesichtsausdruck ('Pfeifgesicht'), V- oder H-förmigem Kinn und ausgeprägten Nasolabialfalten. Die meisten Patienten haben einen Klumpfuß und angeborene Gelenkkontrakturen an Händen und Füßen. Es handelt sich um die schwerste Form der distalen Arthrogrypose."},"es":{"name":"Síndrome de Freeman-Sheldon","synonyms":["Artrogriposis distal tipo 2A","Displasia cráneo-carpo-tarsal","Distrofia cráneo-carpo-tarsal","Síndrome de Freeman-Burian","Síndrome de cara de silbador"],"definition":"Es un síndrome poco frecuente de artrogriposis distal congénito caracterizado por microstomía, apariencia de cara silbando, mentón con surcos en forma de V o H y pliegues nasolabiales prominentes; la mayoría de los pacientes presenta pie zambo y contracturas congénitas de las articulaciones de las manos y los pies. Es la forma más grave de artrogriposis distal."},"it":{"name":"Sindrome di Freeman-Sheldon","synonyms":["Artrogriposi distale, tipo 2A","Displasia cranio-carpo-tarsale","Distrofia cranio-carpo-tarsale","Sindrome con faccia da fischiatore","Sindrome di Freeman-Burian"],"definition":"La sindrome di Freeman-Sheldon (FSS) è un'artrogriposi distale congenita rara, caratterizzata da microstomia, viso ''da fischiatore'', mento con pliche a forma di V o H, e pieghe naso-labiali prominenti. La maggior parte dei pazienti presenta piede torto e contratture articolari congenite delle mani e dei piedi. Si tratta della forma più grave di artrogriposi distale."},"nl":{"name":"Syndroom van Freeman-Sheldon","synonyms":["Craniocarpotarsale dysplasie","Craniocarpotarsale dystrofie","Distale artrogrypose type 2A","Syndroom van Freeman-Burian","Whistling face-syndroom"],"definition":"Een zeldzaam, congenitaal syndroom van distale artrogrypose, gekarakteriseerd door microstomie, fluitmond, kin met V- of H- vormige plooi, en prominente nasolabiale plooien; de meeste patiënten klompvoet en congenitale gewrichtscontracturen van handen en voeten. Het is de meest ernstige vorm van distale artrogrypose."},"pt":{"name":"Síndrome Freeman-Sheldon","synonyms":["Artrogripose distal tipo 2A","Distrofia crânio-carpo-társica","Síndrome Freeman-Burian","Síndrome de face em assobio"]},"pl":{"name":"Zespół Freemana i Sheldona","synonyms":["Dysplazja czaszkowo-nadgarstkowo-skokowa","Dystalna artrogrypoza typu 2A","Dystrofia czaszkowo-nadgarstkowo-skokowa","Zespół gwiżdżącej twarzy"],"definition":"Rzadki wrodzony zespół dystalnej artrogrypozy charakteryzujący się mikrostomią, gwiżdżącym wyglądem twarzy, podbródkiem z fałdami w kształcie litery V lub H oraz wydatnymi fałdami nosowo-wargowymi; u większości pacjentów występuje stopa końsko-szpotawa oraz wrodzone przykurcze stawów dłoni i stóp. Jest to najcięższa postać artrogrypozy dystalnej."},"cs":{"name":"Freemanův-Sheldonův syndrom","synonyms":["Kraniokarpotarsální dysplázie","Kraniokarpotarsální dystrofie","Distální arthrogrypóza, typ 2A","Syndrom pískající tváře","Freeman-Sheldonův syndrom"]},"uk":{"name":"Синдром Фрімана-Шелдона","synonyms":["Краніокарпотарзальна дисплазія","Краніокарпотарзальна дистрофія","Дистальний артрогрипоз, тип 2А","Синдром Фрімана-Буріана","Синдром свистячого обличчя"],"definition":"A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis."},"zh":{"name":"Freeman-Sheldon 综合征","synonyms":["远端关节弯曲2A型"]},"tr":{"name":"Freeman-Sheldon sendromu","synonyms":["Islık çalan yüz sendromu","Kraniyokarpotarsal displazi","Kraniyokarpotarsal distrofi","Distal artrogripozis tip 2A"]}},"xrefs":[{"source":"OMIM","code":"193700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"277720","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1314169421"},{"source":"MONDO","code":"0008675","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535483","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265224","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6466","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073655","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97120,"name":"Distal arthrogryposis","classifications":[147,156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":98738,"name":"Neurological muscular channelopathy due to a genetic sodium channel defect","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MYH3","name":"myosin heavy chain 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16642020[PMID]","hgnc":"7573","ensembl":"ENSG00000109063","omim":"160720","loci":["17p13.1"]},{"symbol":"NALCN","name":"sodium leak channel, non-selective","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25683120[PMID]","hgnc":"19082","ensembl":"ENSG00000102452","omim":"611549","loci":["13q32.3-q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"19309503[PMID]_[EXPERT]_23277889[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010751","label":"Chin dimple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001557","label":"Prenatal movement abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010489","label":"Absent palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null}]}}