{"orpha":85202,"name":"Keutel syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85202/","orphanet_url":"https://www.orpha.net/en/disease/detail/85202","names":{"fr":{"name":"Syndrome de Keutel","synonyms":["Syndrome de sténose pulmonaire-brachytéléphalangie-calcification du cartilage"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une calcification diffuse du cartilage, une brachytéléphalangie, des sténoses des branches périphériques de l'artère pulmonaire et une dysmorphie faciale. Des calcifications vasculaires ont été rapportées dans certains cas."},"de":{"name":"Keutel-Syndrom","synonyms":["Pulmonalstenose - Brachytelephalangie - Knorpel-Kalzifikationen"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch diffuse Knorpelverkalkung, Brachytelephalangie, periphere Pulmonalarterienstenosen und Gesichtsdysmorphien gekennzeichnet ist. In einigen Fällen wurde über Gefäßverkalkungen berichtet."},"es":{"name":"Síndrome de Keutel","definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas poco frecuente caracterizado por calcificación difusa del cartílago, braquitelefalangismo, estenosis de la arteria pulmonar periférica y dismorfia facial. En algunos casos se ha descrito calcificación vascular."},"it":{"name":"Sindrome di Keutel","synonyms":["Stenosi polmonare - brachitelefalangismo - calcificazione delle cartilagini"]},"nl":{"name":"Syndroom van Keutel","synonyms":["Pulmonalisklepstenose - brachytelefalangisme - verkalking van kraakbeen-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door diffuse verkalking van kraakbeen, brachytelefalangie, stenose van perifere longarterie, en faciale dysmorfie. In sommige gevallen werd vasculaire calcificatie gerapporteerd."},"pt":{"name":"Síndrome Keutel","definition":"Síndrome rara de anomalias congénitas múltiplas/dismórficas caracterizada por calcificação difusa da cartilagem, braquitelefalangismo, estenoses periféricas da artéria pulmonar e dismorfismo facial. Calcificação vascular foi relatada em alguns casos."},"pl":{"name":"Zespół Keutela","synonyms":["Pulmonic stenosis - brachytelephalangism - calcification of cartilages"]},"cs":{"name":"Keutelův syndrom","synonyms":["Syndrom zahrnující stenózu arterie pulmonalis, brachytelefalangismus a kalcifikaci chrupavek"]},"uk":{"name":"Синдром Кейтеля","synonyms":["Синдром легеневого стенозу-брахітефалангізму-кальцинозу хрящів"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases."},"zh":{"name":"Keutel综合征","synonyms":["肺动脉狭窄-末节指骨短小-软骨钙化综合征"]},"tr":{"name":"Keutel sendromu","synonyms":["Pulmonik stenoz-brakitelefalanjizm-kıkırdak sendromunun kalsifikasyonu"]}},"xrefs":[{"source":"OMIM","code":"245150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1083151379"},{"source":"MONDO","code":"0009495","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536167","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855607","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8449","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93442,"name":"Chondrodysplasia punctata","classifications":[147,156,199]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"MGP","name":"matrix Gla protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"9916809[PMID]_15810001[PMID]","hgnc":"7060","ensembl":"ENSG00000111341","omim":"154870","loci":["12p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"15810001[PMID]","terms":[{"hpo":"HP:0100593","label":"Calcification of cartilage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100682","label":"Tracheal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011108","label":"Recurrent sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001027","label":"Soft, doughy skin","frequency":"Occasional (29-5%)","criteria":null}]}}