{"orpha":2482,"name":"Melhem-Fahl syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare dysostosis characterized by the presence of fifteen dorsal vertebrae and rib pairs with a normal complement of lumbar vertebrae. Patients may also present with Hirschsprung's disease, membraneous imperforate anus with perineal fistula, cryptorchidism, high-arched palate, simian crease and absent nails. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2482/","orphanet_url":"https://www.orpha.net/en/disease/detail/2482","names":{"fr":{"name":"Syndrome de Melhem-Fahl","definition":"Dysostose rare caractérisée par la présence de quinze vertèbres dorsales et de paires de côtes, et un nombre normal de vertèbres lombaires. Les patients peuvent également présenter la maladie de Hirschsprung, une imperforation anale avec fistule périnéale, une cryptorchidie, un palais ogival, un pli palmaire transverse unique et une absence d'ongles. Aucun nouveau cas n'a été décrit dans la littérature depuis 1985."},"de":{"name":"Melhem-Fahl-Syndrom","definition":"Eine seltene Dysostose, die durch das Vorhandensein von fünfzehn Rückenwirbeln und Rippenpaaren mit einer normalen Anzahl von Lendenwirbeln gekennzeichnet ist. Die Patienten können auch eine Hirschsprung-Krankheit, einen membranösen Analatresie mit perinealer Fistel, Kryptorchismus, einen hochgewölbten Gaumen, eine Vierfingerfurche und fehlende Nägel aufweisen. Seit 1985 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Melhem-Fahl","definition":"Es una disostosis poco frecuente caracterizada por la presencia de quince pares de vértebras dorsales y costillas, con una dotación normal de vértebras lumbares. Los pacientes también pueden asociar enfermedad de Hirschsprung, ano imperforado membranoso con fístula perineal, criptorquidia, paladar ojival, pliegue simiesco y anoniquia. No se han descrito más casos en la literatura desde 1985."},"it":{"name":"Sindrome di Melhem-Fahl","definition":"La sindrome di Melhem-Fahl è stata descritta nel 1985 in due fratelli nati da genitori consanguinei; è caratterizzata dalla presenza di 15 vertebre dorsali e coppie di costole. Non sono stati segnalati altri casi, oltre a quello descritto originariamente."},"nl":{"name":"Syndroom van Melhem-Fahl","definition":"Een zeldzame dysostose, gekenmerkt door de aanwezigheid van vijftien dorsale wervels en vijftien paar ribben, en een normaal aantal lumbale wervels. Patiënten presenteren zich mogelijk ook met ziekte van Hirschsprung, membraneuze anusatresie met perineale fistels, cryptorchisme, hoog gebogen gehemelte, doorlopende dwarse handlijn van handpalm, en afwezige nagels. Sinds 1985 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Melhem-Fahl"},"pl":{"name":"Zespół Melhema i Fahla"},"cs":{"name":"Melhemův-Fahlův syndrom","synonyms":["Melhem-Fahlův syndrom"]},"uk":{"name":"Синдром Мельгема-Фаля","definition":"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report."},"zh":{"name":"Melhem-Fahl综合征"},"tr":{"name":"Melhem-Fahl sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q76.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.H","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"999539082"},{"source":"MONDO","code":"0016622","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537238","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931453","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3462","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]}],"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":"3969298[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3969298[PMID]"}],"phenotypes":null}