{"orpha":1278,"name":"Brachydactyly-preaxial hallux varus syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare dysostosis with brachydactyly with exstraskeletal manifestations characterized by hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1278/","orphanet_url":"https://www.orpha.net/en/disease/detail/1278","names":{"fr":{"name":"Syndrome de brachydactylie préaxiale-hallux varus","definition":"Dysostose rare avec brachydactylie avec manifestations extrasquelettiques caractérisée par un hallux varus, les pouces et les gros orteils courts (sont concernés les métacarpiens, les métatarsiens et les phalanges distales ; les phalanges proximales et moyennes sont de longueur normale) et une abduction des doigts affectés. Une déficience intellectuelle a été observée chez tous les patients rapportés. Aucun cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"Präaxiale Brachydaktylie-Hallux varus-Syndrom","definition":"Eine seltene Dysostose mit Brachydaktylie und exstraskeletalen Manifestationen, die gekennzeichnet ist durch die Assoziation von Hallux varus und kurzen Daumen und Großzehen (unter Einbeziehung der Metakarpalia, Metatarsalia und Endphalangen, bei normal langen Grundphalangen). Daumen und Großzehen sind im Grundgelenk abduziert. Bei allen berichteten Personen wurden intellektuelle Beeinträchtigungen festgestellt. Seit 1992 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de braquidactilia-hallux varus preaxial","definition":"Es una disostosis con braquidactilia poco frecuente con manifestaciones extraesqueléticas caracterizada por hallux varo conacortamineto de los pulgares y primeros dedos de los pies (afectando a los metacarpianos, metatarsianos y falanges distales, mientras que las falanges medias y proximales presentan una longitud normal) y abducción de los dedos afectados. Se ha observado discapacidad intelectual en todos los pacientes. No se han descrito más casos desde 1992."},"it":{"name":"Sindrome brachidattilia preassiale-alluce varo","definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata da alluce varo e accorciamento del pollice e del primo dito del piede (che interessa i metacarpi, i metatarsi e le falangi distali, mentre le falangi prossimali e intermedie hanno una lunghezza normale) e dall'abduzione delle dita interessate. Tutti i pazienti presentano deficit intellettivo. Non sono stati descritti nuovi casi dopo il 1994."},"nl":{"name":"Brachydactylie - preaxiale hallux varus-syndroom","definition":"Een zeldzame dysostose met brachydactylie met extraskeletale manifestaties, gekenmerkt door hallux varus met korte duimen en halluces (met betrokkenheid van metacarpalen, metatarsalen en distale falangen; proximale en middelste falangen hebben een normale lengte) en abductie van de aangetaste vingers/tenen. Intellectuele achterstand werd bij alle gerapporteerde individuen waargenomen. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de braquidactilia-hallux varus pré-axial","definition":"Disostose rara com braquidactilia e manifestações extra-esqueléticas caracterizada por hálux varo com polegares e primeiros dedos curtos (envolvendo os metacarpos, metatarsos e falanges distais; as falanges proximais e médias apresentam um comprimento normal) e abdução dos dedos afetados. Registou-se perturbação do desenvolvimento intelectual em todos os indivíduos relatados. Não existem descrições adicionais na literatura desde 1992."},"pl":{"name":"Brachydaktylia - przedosiowy paluch koślawy","definition":"Rzadka dysostoza z brachydaktylią i objawami pozaszkieletowymi, która charakteryzuje się koślawością palucha, krótkimi kciukami i paluchami (skrócenie obejmuje kości śródręcza, śródstopia i paliczki dalsze; paliczki bliższe i środkowe są prawidłowej długości) oraz odwiedzeniem chorobowo zmienionych palców. U wszystkich opisanych pacjentów obserwowano deficyt intelektualny. Od 1992 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující brachydaktylii a preaxiální hallux varus"},"uk":{"name":"Синдром брахідактилії з преаксіальною варусною клишоногості","definition":"A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994."},"zh":{"name":"短指畸形-前轴型拇内翻综合征"},"tr":{"name":"Brakidaktili-preaksiyal halluks varus sendromu"}},"xrefs":[{"source":"OMIM","code":"112450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007214","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518542","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"972","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"5082920[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5082920[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004059","label":"Radial club hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}