{"orpha":2504,"name":"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2504/","orphanet_url":"https://www.orpha.net/en/disease/detail/2504","names":{"fr":{"name":"Syndrome de dysplasie métaphysaire-dysmorphie-brachydactylie","definition":"Le syndrome de dysplasie métaphysaire-dysmorphie-brachydactylie est caractérisé par une dysplasie métaphysaire associée à une petite taille et à une dysmorphie (nez en bec d'oiseau, philtrum court, lèvres fines, hypoplasie maxillaire, dents jaunâtres et dystrophiques) et des anomalies acrales (métacarpe 5 court er/ou phalanges médianes des doigts 2 et 5 courtes). Ce syndrome a été décrit chez plusieurs membres appartenant à quatre générations d'une famille de Canadiens Français. Il se transmet probablement sur le mode autosomique dominant."},"de":{"name":"Metaphysäre Dysplasie-Maxillahypoplasie-Brachydaktylie-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch Metaphysäre Dysplasie, Kleinwuchs, faziale Dysmorphien (schnabelförmige Nase, kurzes Philtrum, schmale Lippen, Hypoplasie der Maxilla, dystrophe und gelblich verfärbte Zähne) und Anomalien der Akren (kurzes Metacarpale V und/oder Brachymesophalangie der Finger II-V). Es wurde in 1 französisch-kanadischen Familie bei mehreren Angehörigen aus 4 Generationen beschrieben. Wahrscheinlich wird das Syndrom autosomal-dominant vererbt."},"es":{"name":"Síndrome de displasia metafisaria-hipoplasia maxilar-braquidactilia","definition":"Es un síndrome caracterizado por displasia metafisaria asociada a talla baja y dismorfia facial (nariz picuda, surco nasolabial corto, labios finos, hipoplasia maxilar, dientes amarillentos distróficos) y anomalías acrales (acortamiento de quintos metacarpianos y/o de las falanges medias de los dedos segundo y quinto). Se ha descrito en varios miembros a lo largo de cuatro generaciones de una familia franco-canadiense. El síndrome es, probablemente, de transmisión autosómica dominante."},"it":{"name":"Displasia metafisaria - ipoplasia mascellare - brachidattilia"},"nl":{"name":"Metafysaire dysplasie - maxillaire hypoplasie - brachydactylie-syndroom","definition":"Metafysaire dysplasie - maxillaire hypoplasie - brachydactylie-syndroom wordt gekenmerkt door metafysaire dysplasie geassocieerd met kleine gestalte, faciale dysmorfie (snavelvormige neus, kort filtrum, dunne lippen, hypoplasie van bovenkaak, dystrofische gelige tanden) en acrale anomalieën (korte vijfde metacarpalen en/of korte middelste falangen van vingers twee en vijf). Het werd beschreven bij verschillende leden uit vier generaties van een Frans-Canadese familie. Het syndroom wordt waarschijnlijk overgedragen als een autosomaal dominant kenmerk."},"pt":{"name":"Síndrome de displasia metafisária-hipoplasia maxilar-braquidactilia"},"pl":{"name":"Dysplazja przynasadowa - hipoplazja szczęki - brachydaktylia"},"cs":{"name":"Syndrom zahrnující metafyzární dysplázii, hypoplázii maxily a brachydaktylii"},"uk":{"name":"Синдром метафізарної дисплазії-гіпоплазії верхньої щелепи-брахідактилії","definition":"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait."},"zh":{"name":"干骺端发育不良-上颌骨发育不足-短指畸形综合征"},"tr":{"name":"Metafizyel displazi-maksiller hipoplazi-brakidaktili sendromu"}},"xrefs":[{"source":"OMIM","code":"156510","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.7","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1309213842"},{"source":"MONDO","code":"0007984","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510380","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3568","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93430,"name":"Multiple metaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"RUNX2","name":"RUNX family transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23290074[PMID]","hgnc":"10472","ensembl":"ENSG00000124813","omim":"600211","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23290074[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}