{"orpha":314394,"name":"Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SOFT syndrome"],"definition":"A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314394/","orphanet_url":"https://www.orpha.net/en/disease/detail/314394","names":{"fr":{"name":"Syndrome de petite taille-onychodysplasie-dysmorphie faciale-hypotrichose","synonyms":["Syndrome SOFT"],"definition":"Dysplasie osseuse primaire rare d'origine génétique caractérisée par une forme sévère de petite taille avant et après la naissance, une dysmorphie faciale (dolichocéphalie, visage allongé de forme triangulaire, front haut, fentes palpébrales inclinées vers le bas, nez proéminent, philtrum long, petites oreilles), l'apparition, à un stade précoce ou après la puberté, de cheveux courts et clairsemés et d'ongles hypoplasiques. De petites mains aux doigts effilés, une bracydactylie et une clinodactylie du cinquième doigt, ainsi qu'une voix aiguë sont également associées."},"de":{"name":"Kleinwuchs-Onychodysplasie-Gesichtsdysmorphie-Hypotrichose-Syndrom","synonyms":["SOFT-Syndrom"]},"es":{"name":"Síndrome de talla baja-onicodisplasia-dismorfia facial-hipotricosis","synonyms":["Síndrome SOFT"],"definition":"El síndrome de talla baja - onicodisplasia - dismorfia facial - hipotricosis es un trastorno de displasia ósea primaria, genético y poco frecuente, caracterizado por talla baja grave (pre- y postnatal), dismorfia facial (que incluye dolicocefalia, cara triangular larga, frente alta, fisuras palpebrales inclinadas hacia abajo, nariz prominente, surco nasolabial largo, orejas pequeñas), cabello corto y escaso y uñas hipoplásicas de inicio temprano o postpuberal. También se asocia a manos pequeñas con dedos afilados y braquidactilia y clinodactilia del quinto dedo, así como a voz aguda."},"it":{"name":"Sindrome da bassa statura, onicodisplasia, dismorfismi facciali ed ipotricosi","synonyms":["Sindrome SOFT"],"definition":"La sindrome che associa la bassa statura, l'onicodisplasia, i dismorfismi facciali e l'ipotricosi è una displasia scheletrica primitiva genetica rara, caratterizzata da statura pre- e postnatale notevolmente bassa, dismorfismi facciali (dolicocefalia, viso triangolare allungato, fronte alta, rime palpebrali oblique verso il basso, naso prominente, filtro lungo, orecchie piccole), apparato pilifero precoce o postpuberale rado e accorciato, ed ipoplasia delle unghie delle mani. I pazienti possono presentare anche mani piccole con dita affusolate, brachidattilia, clinodattilia del quinto dito e voce acuta."},"nl":{"name":"Kleine gestalte - onychodysplasie - faciale dysmorfie - hypotrichose-syndroom","synonyms":["SOFT-syndroom"],"definition":"Kleine gestalte - onychodysplasie - faciale dysmorfie - hypotrichose-syndroom is een zeldzame, genetische, primaire botdysplasie die gekarakteriseerd wordt door ernstige pre- en postnatale kleine gestalte, faciale dysmorfie (inclusief dolichocefalie, lang en driehoekig gelaat, lang voorhoofd, schuin aar beneden hellende ooglidspleten, prominente neus, lang filtrum, kleine oren), vroeg aanvangend of postpuberaal schaars, kort haar en hypoplastische vingernagels. Kleine handen met spitse vingers, brachydactylie, clinodactylie van de vijfde vinger, en een hoge stem zijn ook geassocieerd."},"pt":{"name":"Síndrome de baixa estatura-onicodisplasia-dismorfia facial-hipotricose","synonyms":["Síndrome SOFT"]},"pl":{"name":"Zespół niski wzrost-onychodysplazja-dysmorfia twarzy-hipotrichoza","synonyms":["Zespół SOFT"],"definition":"*Zespół niski wzrost-onychodysplazja-dysmorfia twarzy-hipotrichoza jest rzadką, genetycznie uwarunkowaną, pierwotną dysplazją kostną. Charakteryzuje się ciężką przed- i po urodzeniową niskorosłością, dysmorfią twarzy (dolichocefalia, długa trójkątna twarz, wysokie czoło, skośnie ku dołowi ustawione szpary powiekowe, wydatny nos, długa rynienka podnosowa, małe uszy), pojawieniem się na wczesnym etapie rozwoju lub dopiero po okresie dojrzewania rzadkich, krótkich włosów i hipoplastycznych paznokci. Opisywano również małe dłonie ze zwężającymi się, krótkimi palcami, klinodaktylię piątego palca oraz wysoki ton głosu."},"cs":{"name":"Syndrom zahrnující malý vzrůst, onychodysplázii, faciální dysmorfismus a hypotrichózu","synonyms":["SOFT syndrom"]},"uk":{"name":"Синдром низькорослості-оніходисплазії-дисморфізму обличчя-гіпотрихозу","synonyms":["SOFT-синдром"],"definition":"A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated."},"zh":{"name":"身材矮小-甲发育不良-面部畸形-毛发稀少症","synonyms":["SOFT综合征"],"definition":"身材矮小-甲状腺增生-面部畸形-稀毛综合征是一种罕见的遗传性原发性骨发育异常疾病，其特征是严重的产前和产后身材矮小、面部畸形(包括长头畸形，脸长三角形，额高，睑裂下斜，鼻子突出，人中长，耳小），早发或者青春期后毛发稀疏，短发和指甲发育不全。也表现为手小指细，短指和小指弯指畸形，以及音调偏高。"},"tr":{"name":"Kısa boy onikodisplazi-yüz dismorfizm-hipotrikoz sendromu","synonyms":["SOFT sendromu"]}},"xrefs":[{"source":"OMIM","code":"614813","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013894","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3542022","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":363250,"name":"Ciliopathy","classifications":[156]},{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"POC1A","name":"POC1 centriolar protein A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22840363[PMID]_22840364[PMID]","hgnc":"24488","ensembl":"ENSG00000164087","omim":"614783","loci":["3p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"22440536[PMID]_22840364[PMID]_22840363[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}