{"orpha":2868,"name":"Short stature-valvular heart disease-characteristic facies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2868/","orphanet_url":"https://www.orpha.net/en/disease/detail/2868","names":{"fr":{"name":"Syndrome de petite taille-valvulopathie cardiaque-dysmorphie","definition":"Le syndrome de petite taille-valvulopathie cardiaque-dysmorphie est caractérisé par une très petite taille avec des jambes particulièrement courtes, des petites mains, une clinodactylie, une valvulopathie, et une dysmorphie (ptosis, palais ogival, dentition anormale). Il a été décrit chez une femme et deux de ses filles. Ce syndrome se transmet probablement sur le mode autosomique dominant."},"de":{"name":"Kleinwuchs-Herzklappenfehler-charakteristisches Gesicht-Syndrom","synonyms":["Syndromaler Kleinwuchs mit Herzklappenfehler und charakteristischen Gesichtszügen"],"definition":"Dieses Syndrom ist gekennzeichnet durch erheblichen Kleinwuchs, unproportional verkürzte Gliedmaßen, kleine Hände, Klinodaktylie, Herzklappenfehler und Dysmorphien (Ptose, hoher Gaumenbogen, abnormes Gebiss)."},"es":{"name":"Síndrome de talla baja-valvulopatía cardíaca-facies característica","definition":"Es un síndrome caracterizado por talla baja extrema con piernas desproporcionadamente cortas, manos pequeñas, clinodactilia, enfermedad cardiaca valvular y dismorfia (ptosis, paladar ojival, dentición anómala). Se ha descrito en una madre ysus dos hijas. Este síndrome se transmite probablemente como un rasgo autosómico dominante."},"it":{"name":"Bassa statura - valvulopatia cardiaca - facies caratteristica"},"nl":{"name":"Kleine gestalte - hartklepaandoening - karakteristiek gelaat-syndroom","definition":"Een syndroom, gekenmerkt door ernstige kleine gestalte met disproportioneel korte benen, kleine handen, clinodactylie, aandoening van hartklep, en dysmorfie (ptosis, hoog gebogen gehemelte, abnormaal gebit). Kleine gestalte - hartklepaandoening - karakteristiek gelaat-syndroom werd beschreven bij een moeder en twee van haar dochters. Dit syndroom wordt waarschijnlijk overgedragen als een autosomaal dominant kenmerk."},"pt":{"name":"Síndrome de baixa estatura-valvulopatia cardíaca-face peculiar"},"pl":{"name":"Niski wzrost - choroba zastawki serca - charakterystyczny wygląd twarzy"},"cs":{"name":"Syndrom zahrnující malý vzrůst, onemocnění srdečních chlopní a charateristickou facies"},"uk":{"name":"Синдром низькорослості-клапанних вад серця-характерного обличчя","definition":"Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait."},"zh":{"name":"身材矮小症-心脏瓣膜病-特征性面容综合征"},"tr":{"name":"Kısa boy kalp kapak hastalığı-karakteristik fasiyes sendromu"}},"xrefs":[{"source":"OMIM","code":"126190","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007461","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274784","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"2302822[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2302822[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100729","label":"Large face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null}]}}