{"orpha":3291,"name":"Teebi-Shaltout syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3291/","orphanet_url":"https://www.orpha.net/en/disease/detail/3291","names":{"fr":{"name":"Syndrome de Teebi-Shaltout","definition":"Anomalie rare du développement embryonnaire d'origine génétique qui se caractérise par l'association de traits faciaux caractéristiques (notamment une forme de tête anormale avec un front étroit, un hypertélorisme, un télécanthus, de petits lobes d'oreille, un pont et une pointe nasales larges, les ailes du nez insuffisamment développées, une bouche petite/large et un palais ogival/fente palatine), d'une dysplasie ectodermique (y compris oligodontie avec retard d'éruption dentaire, croissance lente des cheveux et hypohidrose) et d'anomalies squelettiques (y compris camptodactylie et appendice caudal). La petite taille et les plis palmaires anormaux sont des caractéristiques cliniques supplémentaires."},"de":{"name":"Teebi-Shaltout-Syndrom"},"es":{"name":"Síndrome de Teebi-Shaltout","definition":"El síndrome de Teebi-Shaltout es un síndrome dismórfico poco frecuente, caracterizado por rasgos faciales característicos, que incluyen malformación craneal con frente estrecha, hipertelorismo, telecanto, lóbulos de las orejas pequeños, puente y punta nasales anchos, fosas nasales poco desarrolladas, boca pequeña / ancha y paladar alto / hendido. También se caracteriza por displasia ectodérmica (que incluye oligodoncia con retraso de la dentición, crecimiento lento del cabello y reducción de la sudoración), así como anomalías esqueléticas que incluyen camptodactilia y apéndice caudal. Otras características adicionales son talla baja y pliegues palmares anómalos."},"it":{"name":"Sindrome di Teebi-Shaltout","definition":"La sindrome di Teebi-Shaltout è una malattia malformativa rara, di origine genetica, causata da un difetto di sviluppo dell'embrione. È caratterizzata da dismorfismi facciali tipici (anomalie morfologiche della testa, fronte stretta, ipertelorismo, telecanto, ipoplasia dei lobi delle orecchie, allargamento della sella e della punta del naso con ali iposviluppate, bocca piccola/grande e labio/palatoschisi), displasia ectodermica (oligodontia con ritardo della dentizione, capelli a crescita lenta e ridotta sudorazione) ed anomalie scheletriche, compresa la camptodattilia e l'appendice caudale. Possono associarsi la bassa statura e le anomalie delle pieghe palmari."},"nl":{"name":"Syndroom van Teebi-Shaltout","definition":"Syndroom van Teebi-Shaltout is een zeldzaam, genetisch malformatiesyndroom met een ontwikkelingsdefect tijdens de embryogenese, en wordt gekarakteriseerd door associatie van typische gelaatskenmerken (waaronder abnormaal gevormd hoofd met smal voorhoofd, hypertelorisme, telecanthus, kleine oorlellen, brede neusbrug en -punt, onderontwikkelde neusvleugels, kleine/brede mond en hoog/gespleten verhemelte), ectodermale dysplasie (waaronder oligodontie met vertraagde doorbraak van tanden, traaggroeiend haar en verminderd zweten) en skeletafwijkingen waaronder camptodactylie en caudaal aanhangsel. Een kleine gestalte en abnormale handpalmplooien zijn bijkomende klinische kenmerken."},"pt":{"name":"Síndrome Teebi-Shaltout"},"pl":{"name":"Zespół Teebi i Shaltouta"},"cs":{"name":"Teebiho-Shaltoutové syndrom","synonyms":["Teebi-Shaltoutové syndrom"]},"uk":{"name":"Синдром Тібі-Шалтаута","definition":"Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features."},"zh":{"name":"Teebi-Shaltout综合征"},"tr":{"name":"Teebi-Shaltout sendromu"}},"xrefs":[{"source":"OMIM","code":"272950","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010101","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536950","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848912","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5125","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93453,"name":"Dysostosis with predominant craniofacial involvement","classifications":[147,156,199]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"23918592[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23918592[PMID]"}],"phenotypes":null}