{"orpha":2866,"name":"Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome","Thong-Douglas-Ferrante syndrome"],"definition":"A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2866/","orphanet_url":"https://www.orpha.net/en/disease/detail/2866","names":{"fr":{"name":"Syndrome de petite taille-surdité-neutrophiles anormaux","synonyms":["Syndrome de Thong-Douglas-Ferrante"],"definition":"Anomalie rare du développement embryonnaire caractérisée par une petite taille proportionnée, une surdité neurosensorielle, un mutisme, une dysmorphie faciale et des infections récurrentes dues à une chimiotaxie anormale des neutrophiles. Aucun cas n'a été décrit dans la littérature depuis 1978."},"de":{"name":"Kleinwuchs-Schwerhörigkeit-neutrophile Funktionsstörung-Dysmorphien-Syndrom","synonyms":["Thong-Douglas-Ferrante-Syndrom"],"definition":"Ein seltener syndromaler Entwicklungsdefekt während der Embryogenese, gekennzeichnet durch proportionale Kleinwüchsigkeit, sensorineurale Schwerhörigkeit, Mutismus, Gesichtsdysmorphien und rezidivierende Infektionen als Folge einer abnormen neutrophilen Chemotaxis. Seit 1978 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de talla baja-sordera-disfunción neutrófila-dismorfia","synonyms":["Síndrome de talla baja-hipoacusia-disfunción neutrófila-dismorfia"],"definition":"Es un síndrome malformativo congénito poco frecuente, caracterizado por talla baja proporcionada, sordera neurosensorial, mutismo, dismorfia facial e infecciones recurrentes como resultado de una quimiotaxis neutrofílica reducida. No ha habido más casos descritos en la literatura desde 1978."},"it":{"name":"Sindrome da bassa statura-sordità-disfunzione dei neutrofili-dismorfismi","synonyms":["Sindrome di Thong-Douglas-Ferrante"],"definition":"Si tratta di una malattia malformativa rara, causata da un difetto di sviluppo dell'embrione, caratterizzata da bassa statura proporzionata, sordità neurosensoriale, mutismo, dismorfismi facciali e infezioni ricorrenti causate da anomalie della chemiotassi nei neutrofili. Non sono stati descritti nuovi casi dopo il 1978."},"nl":{"name":"Kleine gestalte - doofheid - neutrofieldisfunctie - dysmorfie-syndroom","synonyms":["Syndroom van Thong-Douglas-Ferrante"],"definition":"Een zeldzaam malformatiesyndroom met een ontwikkelingsdefect tijdens de embryogenese, gekarakteriseerd door proportioneel kleine gestalte, sensorineurale doofheid, mutisme, faciale dysmorfie en recurrente infecties als gevolg van abnormale chemotaxis van neutrofielen. Sinds 1978 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de baixa estatura-surdez-disfunção dos neutrófilos-dismorfia","synonyms":["Síndrome Thong-Douglas-Ferrante"]},"pl":{"name":"Niski wzrost - deafness - dysfunkcja neutrofili - dysmorfia","synonyms":["Zespół Thonga, Douglasa i Ferrante"]},"cs":{"name":"Syndrom zahrnující malý vzrůst, hluchotu, dysfunkci neutrofilů a dysmorfismus","synonyms":["Thongův-Douglasův-Ferranteův syndrom","Thong-Douglas-Ferranteův syndrom"]},"uk":{"name":"Синдром низькорослості-глухоти-нейтрофільної дисфункції-дисморфізму","synonyms":["Синдром низькорослості - втрати слуху - дисфункції нейтрофілів - дисморфізму","Синдром Тонга-Дугласа-Ферранте"],"definition":"A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978."},"zh":{"name":"身材矮小-耳聋-中性粒细胞功能障碍-畸形综合征","synonyms":["Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome","Thong-Douglas-Ferrante syndrome"]},"tr":{"name":"Kısa boy-sağırlık-nötrofil disfonksiyonu-dismorfizm sendromu","synonyms":["Kısa boy-işitme kaybı-nötrofil disfonksiyonu-dismorfizm sendromu","Thong-Douglas-Ferrante sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"208951560"},{"source":"MONDO","code":"0017316","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274785","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4841","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"654917[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_654917[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null}]}}