{"orpha":52056,"name":"Ulnar/fibula ray defect-brachydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Morava-Mehes syndrome"],"definition":"A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52056/","orphanet_url":"https://www.orpha.net/en/disease/detail/52056","names":{"fr":{"name":"Syndrome d'hypoplasie du péroné et du cubitus-brachydactylie","synonyms":["Syndrome de Morava-Mehes"],"definition":"Syndrome malformatif rare caractérisé par une hypoplasie ulnaire associée à des quatrièmes et/ou cinquièmes doigts hypoplasiques ou absents, une hypoplasie fibulaire, une petite taille et une dysmorphie faciale."},"de":{"name":"Ulna-Fibula-Strahldefekt-Brachydaktylie-Syndrom","synonyms":["Morava-Mehes-Syndrom"],"definition":"Ein seltenes angeborenes Fehlbildungssyndrom, das durch eine ulnare Hypoplasie in Verbindung mit hypoplastischen bis fehlenden vierten und/oder fünften Fingern, einer Fibula-Hypoplasie, Kleinwuchs und Gesichtsdysmorphien gekennzeichnet ist."},"es":{"name":"Síndrome de defecto de rayo cubital/peroneo-braquidactilia","synonyms":["Síndrome de Morava-Mehes"],"definition":"Es un síndrome malformativo congénito poco frecuente caracterizado por hipoplasia cubital asociada con la ausencia o hipoplasia de los dedos cuarto y/o quinto, hipoplasia peronea, talla baja y dismorfia facial."},"it":{"name":"Difetto ulna-fibula con brachidattilia","synonyms":["Sindrome di Morava-Mehes"],"definition":"Il difetto dell'ulna/perone con brachidattilia è una sindrome malformativa rara caratterizzata dall'ipoplasia dell'ulna associata all'ipoplasia/agenesia delle quarte e/o quinte dita, ipoplasia del perone, bassa statura e dismorfismi facciali."},"nl":{"name":"Ulna/fibulalijndefect - brachydactylie-syndroom","synonyms":["Syndroom van Morava-Mehes"],"definition":"Een zeldzaam congenitaal malformatiesyndroom, gekenmerkt door hypoplasie van ulna geassocieerd met hypoplastische tot afwezige vierde en/of vijfde digiti, hypoplasie van fibula, kleine gestalte en faciale dysmorfie."},"pt":{"name":"Síndrome de defeito radial do cúbito/fíbula-braquidactilia","synonyms":["Síndrome Morava-Mehes"]},"pl":{"name":"Defekt promieniowy kości łociowej/kości strzałkowej - brachydaktylia","synonyms":["Zespół Morava i Mehesa"],"definition":"Rzadki zespół wrodzonych wad rozwojowych, który charakteryzuje się niedorozwojem kości łokciowej z niedorozwojem lub brakiem czwartego i/lub piątego palca, niedorozwojem kości strzałkowej, niskim wzrostem i dysmorfią twarzy."},"cs":{"name":"Syndrom zahrnující defekt ulnárního/fibulárního paprsku a brachydaktylii","synonyms":["Moravové-Mehesův syndrom","Morava-Mehesův syndrom"]},"uk":{"name":"Синдром дефекту ліктьового/малоберцового променя-брахідактилія","synonyms":["Синдром Морава-Мехеса"],"definition":"A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism."},"zh":{"name":"尺/腓侧指和掌/跖骨缺损-短指综合征","synonyms":["Morava-Mehes综合征"]},"tr":{"name":"Ulna / fibula ışını defekti-brakidaktili sendromu","synonyms":["Morava-Mehes sendromu"]}},"xrefs":[{"source":"OMIM","code":"608571","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012063","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304397","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":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"14564152[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14564152[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006492","label":"Aplasia/Hypoplasia of the fibula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006495","label":"Aplasia/Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006210","label":"Postaxial oligodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null}]}}