{"orpha":3424,"name":"Velo-facial-skeletal syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3424/","orphanet_url":"https://www.orpha.net/en/disease/detail/3424","names":{"fr":{"name":"Syndrome vélo-facio-squelettique","definition":"Le syndrome vélo-facio-squelettique est un syndrome d'anomalies multiples congénitales très rare caractérisé par une petite taille, une dysmorphie faciale (visage allongé, hypertélorisme, racine nasale haute et large, léger épicanthus, oreilles ourlées vers l'arrière, palais ogival étroit), des anomalies squelettiques (brachymélie mésomélique, mains courtes et larges, coussinet digital proéminent, pouces courts et épais, hyperextension des petites articulations, petits pieds et une hypernasalité, en l'absence de déficit intellectuel. Un retard de l'âge osseux a aussi été rapporté."},"de":{"name":"Velo-fazio-skelettales Syndrom","definition":"Das Velo-fazio-skelettales Syndrom ist ein sehr seltenes Syndrom mit multiplen kongenitalen Anomalien. Es ist gekennzeichnet durch Kleinwuchs, Gesichtsdysmorphien (längliches Gesicht, Hypertelorismus, breiter und hoher Nasenrücken, leichter Epikanthus, nach hinten abgewinkelte Ohren, schmaler und hochgewölbter Gaumen), Skelettanomalien (mesomelische Brachymelie, kurze breite Hände, prominente Fingerballen, kurze Stummeldaumen, Hyperextensibilität der kleinen Gelenke, kleine Füße) und Hypernasalität. Ein verzögertes Knochenalter wurde ebenfalls berichtet. Die Betroffenen zeigen ein normale Intelligenz."},"es":{"name":"Síndrome velo-facio-esquelético","definition":"Es un síndrome de anomalías congénitas múltiples muy poco frecuente caracterizado por talla baja, dismorfia facial (cara alargada, hipertelorismo, puente nasal ancho y alto, epicanto leve, orejas rotadas posteriormente, paladar estrecho, alto y arqueado), anomalías esqueléticas (braquimelia mesomélica, manos cortas y anchas, almohadillas de los dedos prominentes, pulgares cortos y gruesos, hiperextensibilidad de las pequeñas articulaciones, pies pequeños), hipernasalidad e inteligencia normal. Tambien se ha descrito un retraso de la edad ósea."},"it":{"name":"Sindrome velo-facio-scheletrica","definition":"La sindrome velo-facio-scheletrica è una malattia molto rara da anomalie congenite multiple, caratterizzata da bassa statura, dismorfismi facciali (viso allungato, ipertelorismo, radice del naso ampia e prominente, epicanto lieve, orecchie retro-ruotate, palato stretto e ogivale), anomalie scheletriche (brachimelia mesomelica, mani corte e grandi, cuscinetti delle dita prominenti, pollici corti e tozzi, iperestensibilità delle piccole articolazioni, piedi piccoli), voce nasale e intelligenza normale. Sono stati descritti casi di ritardo dell'età ossea."},"nl":{"name":"Velo-faciaal-skeletaal syndroom","definition":"Een zeer zeldzaam syndroom met multipele congenitale anomalieën, gekarakteriseerd door kleine gestalte, faciale dysmorfie (lang gelaat, hypertelorisme, brede en hoge neusbrug, milde epicanthus, naar achter gedraaide oren, smal en hoog gebogen verhemelte), skeletanomalieën (mesomele brachymelie, korte brede handen, prominente vingertoppen, korte stompe duimen, hyperextensibiliteit van kleine gewrichten, kleine voeten), hypernasaliteit en normale intelligentie. Vertraagde botmaturatie werd ook gerapporteerd."},"pt":{"name":"Síndrome velo-facio-esquelético"},"pl":{"name":"Zespół podniebienno-twarzowo-szkieletowy"},"cs":{"name":"Velofacioskeletální syndrom"},"uk":{"name":"Велофаціоскелетний синдром","definition":"A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported."},"zh":{"name":"软腭-面-骨骼综合征"},"tr":{"name":"Velo-fasial-iskelet sendromu"}},"xrefs":[{"source":"OMIM","code":"600736","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010925","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536536","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833380","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5469","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]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7573161[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7573161[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001212","label":"Prominent fingertip pads","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Frequent (79-30%)","criteria":null}]}}