{"orpha":2491,"name":"Müllerian duct anomalies-limb anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2491/","orphanet_url":"https://www.orpha.net/en/disease/detail/2491","names":{"fr":{"name":"Syndrome d'anomalies des membres-anomalies des canaux de Müller","definition":"Trouble rare caractérisé par des anomalies mullériennes associées à des anomalies squelettiques distales. Les femmes atteintes présentent un utérus double ou cloisonné, et les hommes un micropénis. Le spectre des malformations au niveau des membres s'étend de la polydactylie post-axiale à une hypoplasie sévère des membres supérieurs avec mains fendues."},"de":{"name":"Syndrom der Müller-Gang-Anomalien mit Extremitätenanomalien","definition":"Dieses Syndrom ist gekennzeichnet durch gemeinsames Auftreten von Anomalien des Müller-Ganges und der Gliedmaßen. Die weiblichen Patienten haben Anomalien, die von einem Vaginalseptum bis zu vollständiger Doppelung des Uterus und der Vagina reichen. Männliche Patienten haben einen Mikropenis. Die Fehlbildungen der Gliedmaßen reichen von postaxialer Polydaktylie bis zu schwerer Hypoplasie der oberen Gliedmaßen und Spalthand. Das Syndrom wird autosomal-dominant vererbt."},"es":{"name":"Síndrome de anomalías en los conductos mullerianos-anomalías de las extremidades","definition":"Es un síndrome caracterizado por la asociación de anomalías de los conductos de Müller y de las extremidades distales. Se ha descrito en cinco individuos de una misma familia. Las mujeres presentan anomalías que van desde un tabique vaginal hasta la duplicación de útero y vagina, y los varones presentan micropene. Las anomalías de las extremidades varían desde polidactilia postaxial a hipoplasia grave de las extremidades superiores con mano hendida. El modo de transmisión es autosómico dominante."},"it":{"name":"Anomalie del dotto mülleriano - anomalie degli arti"},"nl":{"name":"Anomalieën van gang van Müller - ledemaatanomalieën-syndroom","definition":"Anomalieën van gang van Müller - ledemaatanomalieën-syndroom wordt gekenmerkt door de associatie van anomalieën van gang van Müller en van distale ledematen. Het werd beschreven bij vijf individuen uit één familie. Vrouwen vertonen anomalieën gaande van vaginaal septum tot volledige duplicatie van baarmoeder en vagina, en mannen vertonen micropenis. Ledemaatanomalieën variëren van postaxiale polydactylie tot ernstige hypoplasie van bovenste ledematen met gespleten hand. Overerving gebeurt autosomaal dominant."},"pt":{"name":"Síndrome de anomalias dos canais mullerianos-hipomelia"},"pl":{"name":"Wady przewodu Mullera - wady kończyn"},"cs":{"name":"Syndrom zahrnující anomálie Mulleriánského duktu a končetin"},"uk":{"name":"Синдром аномалії Мюллерової протоки - аномалій кінцівок","definition":"A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand."},"zh":{"name":"苗勒管畸形-肢体畸形综合征"},"tr":{"name":"Müllerian kanal anomalileri-ekstremite anomalileri sendromu"}},"xrefs":[{"source":"OMIM","code":"146160","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1418232947"},{"source":"MONDO","code":"0007795","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274837","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2908","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]},{"orpha":180148,"name":"Syndromic uterovaginal malformation","classifications":[205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"3706400[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3706400[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006495","label":"Aplasia/Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005792","label":"Short humerus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003762","label":"Uterus didelphys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}