{"orpha":915,"name":"Aarskog-Scott syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Aarskog syndrome","Faciodigitogenital syndrome","Faciogenital dysplasia"],"definition":"A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-915/","orphanet_url":"https://www.orpha.net/en/disease/detail/915","names":{"fr":{"name":"Syndrome d'Aarskog-Scott","synonyms":["Dysplasie faciogénitale","Syndrome d'Aarskog","Syndrome facio-digito-génital"],"definition":"Le syndrome d'Aarskog-Scott (SAS) est un trouble rare du développement caractérisé par des anomalies faciales, digitales et génitales, et une petite taille avec des mains et des pieds anormalement petits."},"de":{"name":"Aarskog-Scott-Syndrom","synonyms":["Aarskog-Syndrom","Dysplasie, fazio-genitale","Fazio-genito-digitales Syndrom"],"definition":"Das Aarskog-Scott-Syndrom (AAS) ist eine seltene Entwicklungsstörung mit Symptomen im Bereich des Gesichts, der Gliedmassen und der Genitalien und mit dysproportioniertem Kleinwuchs."},"es":{"name":"Síndrome de Aarskog-Scott","synonyms":["Displasia faciogenital","Síndrome de Aarskog","Síndrome faciodigitogenital"],"definition":"Es un trastorno poco frecuente del desarrollo caracterizado por rasgos faciales peculiares, anomalías de las extremidades y de los genitales, y talla baja desproporcionada con acromelia."},"it":{"name":"Sindrome di Aarskog-Scott","synonyms":["Displasia faciogenitale","Sindrome di Aarskog","Sindrome facio-digito-genitale"],"definition":"La sindrome di Aarskog-Scott (AAS) è una malattia rara dello sviluppo, caratterizzata da dismorfismi facciali, anomalie dei genitali e degli arti e bassa statura acromelica sproporzionata."},"nl":{"name":"Syndroom van Aarskog-Scott","synonyms":["Facio-digito-genitaal syndroom","Faciogenitale dysplasie","Syndroom van Aarskog"],"definition":"Een zeldzame ontwikkelingsstoornis, gekarakteriseerd door anomalieën van aangezicht, ledematen en genitaliën, en een disproportionele acromelische kleine gestalte."},"pt":{"name":"Síndrome Aarskog-Scott","synonyms":["Síndrome facio-digito-genital"]},"pl":{"name":"Zespół Aarskoga i Scotta","synonyms":["Dysplazja twarzowo-płciowa","Zespół Aarskoga","Zespół twarzowo-palcowo-płciowy"],"definition":"Rzadkie zaburzenie rozwojowe z charakterystycznymi cechami twarzy, kończyn i narządów płciowych oraz nieproporcjonalnym niskim wzrostem i akromelicznym skróceniem kończyn."},"cs":{"name":"Aarskogův-Scottův syndrom","synonyms":["Aarskoguv syndrom","Faciodigitogenitální syndrom","Faciogenitální dysplázie","Aarskogův syndrom","Aarskog-Scottův syndrom"]},"uk":{"name":"Синдром Аарскога-Скотта","synonyms":["Синдром Аарскога","Лице-пальцево-генітальний синдром","Фаціогенітальна дисплазія"],"definition":"A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature."},"zh":{"name":"阿-斯综合征","synonyms":["面-指-生殖器综合征"]},"tr":{"name":"Aarskog-Scott sendromu","synonyms":["Aarskog sendromu","Fasiyogenital displazi","Fasiyodijitogenital sendrom"]}},"xrefs":[{"source":"OMIM","code":"100050","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"305400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2104999247"},{"source":"MONDO","code":"0021005","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"21005","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535331","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175701","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4775","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067148","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"FGD1","name":"FYVE, RhoGEF and PH domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3663","ensembl":"ENSG00000102302","omim":"300546","loci":["Xp11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001769","label":"Broad foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001169","label":"Broad palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005640","label":"Abnormal vertebral segmentation and fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002816","label":"Genu recurvatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null}]}}