{"orpha":2951,"name":"Absent thumb-short stature-immunodeficiency syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare syndrome with combined immunodeficiency characterized by thumb aplasia, short stature with skeletal abnormalities including unfused olecranon, and combined immunodeficiency manifested with severe chickenpox and chronic candidiasis. Additional clinical features may include flat facies, anosmia, congenital septal defects and delayed puberty. There have been no further descriptions in the literature since 1978.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2951/","orphanet_url":"https://www.orpha.net/en/disease/detail/2951","names":{"fr":{"name":"Syndrome des pouces absents-petite taille-déficit immunitaire","definition":"Maladie immunologique autosomique récessive extrêmement rare, caractérisée par une aplasie du pouce, une petite taille, des anomalies squelettiques et un déficit immunitaire combiné, décrite dans trois fratries issues de deux familles probablement apparentées. Les anomalies squelettiques comprenaient un olécrane non fusionné et une immunodéficience se manifestait par une varicelle sévère et une candidose chronique. Aucun nouveau cas n'a été décrit depuis 1978."},"de":{"name":"Fehlende Daumen-Kleinwuchs-Immundefekt-Syndrom","definition":"Ein seltenes Syndrom mit kombinierter Immundefekt, gekennzeichnet durch Daumenaplasie, Kleinwuchs mit Skelettanomalien einschließlich eines nicht verknöcherten Olekranons und einem kombinierten Immundefekt, der sich in schwerer Windpockeninfektion und chronischer Candidiasis äußert. Weitere klinische Merkmale können ein flaches Gesicht, Anosmie, angeborene Septumdefekte und eine verzögerte Pubertät sein. Seit 1978 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de pulgares ausentes-talla baja-inmunodeficiencia","definition":"Es un síndrome poco frecuente de inmunodeficiencia combinada caracterizado por aplasia del pulgar, talla baja con anomalías esqueléticas, incluyendo olécranon no fusionado, e inmunodeficiencia combinada que se manifiesta con varicela grave y candidiasis crónica. Otras características clínicas pueden incluir facies aplanada, anosmia, defectos septales congénitos y retraso puberal. No se han descrito más casos en la literatura desde 1978."},"it":{"name":"Sindrome da assenza dei pollici-bassa statura-immunodeficienza","definition":"La sindrome da assenza dei pollici-bassa statura- immunodeficienza è una malattia autoimmune autosomica recessiva molto rara. È caratterizzata da aplasia dei pollici, bassa statura associata ad anomalie scheletriche e immunodeficienza combinata. È stata descritta in tre fratrie appartenenti a due famiglie probabilmente consanguinee. Le anomalie scheletriche comprendono la mancata fusione dell'olecrano e l'immunodeficienza che si manifesta con varicella grave e candidiasi cronica. Non sono stati descritti nuovi casi dopo il 1978."},"nl":{"name":"Afwezige duim - kleine gestalte - immuundeficiëntie-syndroom","definition":"Een zeldzaam syndroom met gecombineerde immuundeficiëntie, gekenmerkt door aplasie van duim, kleine gestalte met skeletanomalieën waaronder niet-gefuseerd olecranon (ellepijpshoofd), en gecombineerde immuundeficiëntie die zich manifesteert met ernstige waterpokken en chronische candidiase. Mogelijke bijkomende klinische kenmerken zijn onder meer plat aangezicht, anosmie, congenitale septumdefecten, en uitgestelde puberteit. Sinds 1978 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ausência do polegar-baixa estatura-imunodeficiência"},"pl":{"name":"Brak kciuka - niski wzrost - Niedobór odporności"},"cs":{"name":"Syndrom zahrnující chybějící palec na ruce, malý vzrůst a imunodeficit"},"uk":{"name":"Синдром відсутнього великого пальця руки-низького зросту-імунодефіциту","definition":"An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978."},"zh":{"name":"拇指缺如-身材矮小-免疫缺陷综合征"},"tr":{"name":"Başparmak yokluğu-kısa boy-immün yetmezlik sendromu"}},"xrefs":[{"source":"OMIM","code":"274190","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2129443636"},{"source":"MONDO","code":"0010123","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304503","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"728551[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_728551[PMID]"}],"phenotypes":null}