{"orpha":2497,"name":"Upper limb mesomelic dysplasia, type Fryns","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fryns-Hofkens-Fabry syndrome"],"definition":"A rare primary bone dysplasia characterized by isolated upper limb mesomelic dysplasia. Patients present with ulnar hypoplasia with severe radial bowing, but normal stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2497/","orphanet_url":"https://www.orpha.net/en/disease/detail/2497","names":{"fr":{"name":"Dysplasie mésomélique de l'avant bras type Fryns","synonyms":["Syndrome de Fryns-Hofkens-Fabry"],"definition":"Ce syndrome est une dysplasie mésomélique des membres supérieurs. Il a été décrit chez quatre patients appartenant à deux familles non apparentées (un homme et sa fille, et un homme libanais et son fils). Les patients présentent une hypoplasie cubitale avec une incurvation sévère du radius, et sont de taille normale. Le mode de transmission est probablement autosomique dominant avec une expressivité variable."},"de":{"name":"Dysplasie, mesomele, der oberen Extremität, Typ Fryns","synonyms":["Fryns-Hofkens-Fabry-Syndrom"],"definition":"Eine seltene primäre Knochendysplasie, die durch eine isolierte mesomele Dysplasie der oberen Extremitäten gekennzeichnet ist. Die Patienten weisen eine ulnare Hypoplasie mit schwerer radialer Verbiegung, aber eine normale Statur auf."},"es":{"name":"Displasia mesomélica de las extremidades superiores tipo Fryns","synonyms":["Síndrome de Fryns-Hofkens-Fabry"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por displasia mesomélica aislada de las extremidades superiores. Los pacientes presentan hipoplasia cubital con incurvación radial grave asociada a talla en rango normal."},"it":{"name":"Displasia mesomelica dell'avanbraccio, tipo Fryns","synonyms":["Ipoplasia del gomito","Sindrome di Fryns-Hofkens-Fabry"]},"nl":{"name":"Mesomele dysplasie van bovenste ledematen, Fryns-type","synonyms":["Syndroom van Fryns-Hofkens-Fabry"],"definition":"Dit syndroom is een geïsoleerde mesomele dysplasie van bovenste ledematen. Het werd beschreven bij vier patiënten uit twee niet-verwante families (een man en zijn dochter, en een Libanese man en zijn zoon). Patiënten presenteren zich met hypoplasie van ulna met ernstige kromstand van radius, maar normale gestalte. The manier van transmissie is waarschijnlijk autosomaal dominant met variabele expressiviteit."},"pt":{"name":"Displasia mesomélica dos membros superiores, tipo Fryns","synonyms":["Síndrome Fryns-Hofkens-Fabry"]},"pl":{"name":"Dysplazja mezomeliczna kończyn górnych typu Frynsa","synonyms":["Hipoplazja kości łokciowej","Zespół Frynsa, Hofkensa i Fabry'ego"]},"cs":{"name":"Mezomelická dysplázie horních končetin","synonyms":["Hypoplázie ulny","Frynsův-Hofkensův-Fabryho syndrom","Fryns-Hofkens-Fabryho syndrom"]},"uk":{"name":"Мезомелічна дисплазія верхніх кінцівок, тип Фрінса","synonyms":["Синдром Фрінса-Хофкенса-Фабрі","Гіпоплазія ліктьової кістки"],"definition":"A rare primary bone dysplasia characterized by isolated upper limb mesomelic dysplasia. Patients present with ulnar hypoplasia with severe radial bowing, but normal stature."},"zh":{"name":"上肢肢中骨发育不良","synonyms":["Fryns-Hofkens-Fabry综合征"]},"tr":{"name":"Üst ekstremite mezomelik displazi","synonyms":["Ulna hipoplazisi","Fryns-Hofkens-Fabry sendromu"]}},"xrefs":[{"source":"OMIM","code":"191440","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2013121778"},{"source":"MONDO","code":"0008620","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538069","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5574958","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2408","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"3342548[PMID]_16283892[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3342548[PMID]_16283892[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002986","label":"Radial bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Very frequent (99-80%)","criteria":null}]}}