{"orpha":488232,"name":"Split-foot malformation-mesoaxial polydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SFMMP","Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome"],"definition":"A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488232/","orphanet_url":"https://www.orpha.net/en/disease/detail/488232","names":{"fr":{"name":"Syndrome de pieds fendus-polydactylie mésoaxiale","synonyms":["SFMMP","Syndrome de pieds fendus-polydactylie mésoaxiale-surdité neurosensorielle"],"definition":"Syndrome génétique rare avec anomalie des membres en tant que manifestation majeure caractérisée par une malformation unilatérale ou bilatérale du pied fendu, des malformations des ongles de la main et une déficience auditive neurosensorielle bilatérale. Une polydactylie mésoaxiale du pied a également été décrite."},"de":{"name":"Spaltfuß-Fehlbildung-mesoaxiale Polydaktylie-Syndrom","synonyms":["SFMMP-Syndrom","Spaltfuß-Fehlbildung-mesoaxiale Polydaktylie-Nagelanomalien-sensorineuraler Hörverlust-Syndrom"],"definition":"Ein seltenes genetisches Syndrom mit Fehlbildungen der Extremitäten als Hauptmerkmal, gekennzeichnet durch ein- oder beidseitige Spaltfußfehlbildungen, Nagelanomalien der Hand und beidseitige Innenohrschwerhörigkeit. Eine mesoaxiale Polydaktylie des Fußes wurde ebenfalls beschrieben."},"es":{"name":"Síndrome de malformación de pie hendido-polidactilia mesoaxial","synonyms":["SFMMP","Síndrome de malformación de pie hendido-polidactilia mesoaxial-anomalías de las uñas-hipoacusia neurosensorial"],"definition":"Es un síndrome genético poco frecuente de malformaciones de las extremidades como rasgo principal que se caracteriza por una malformación uni- o bilateral del pie hendido, alteraciones ungueales en las manos y afectación auditiva neurosensorial bilateral. También se ha descrito la polidactilia mesoaxial del pie."},"it":{"name":"Sindrome schisi del piede-polidattilia mesoassiale","definition":"Si tratta di una malattia genetica rara con malformazione degli arti, caratterizzata da schisi mono- o bilaterale del piede, anomalie delle unghie della mano e sordità neurosensoriale bilaterale. Può associarsi a polidattilia mesoassiale."},"nl":{"name":"Gespleten voet-misvorming - meso-axiale polydactylie-syndroom","synonyms":["Gespleten voet-misvorming - meso-axiale polydactylie - nagelafwijkingen - sensorineuraal gehoorverlies-syndroom","SFMMP"],"definition":"Een zeldzaam, genetisch syndroom met malformatie van ledemaat als voornaam kenmerk, gekarakteriseerd door unilaterale of bilaterale gespleten voet, nagelanomalieën van hand, en bilateraal sensorineuraal gehoorverlies. Mesoaxiale polydactylie van voet werd ook reeds beschreven."},"pt":{"name":"Síndrome de malformação de pé fendido-polidactilia mesoaxial"},"pl":{"name":"Zespół rozszczepienia stopy - polidaktylii promienia środkowego","synonyms":["SFMMP","Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome"]},"cs":{"name":"Syndrom zahrnující rozštěp nohy a mezoaxiální polydaktylii","synonyms":["SFMMP","Syndrom zahrnující rozštěp nohy, mezoaxiální polydaktylii, nehtové abnormality a senzorineurální ztrátu sluchu"]},"uk":{"name":"Синдром розщепленої стопи - мезоаксіальна полідактилія","synonyms":["SFMMP","Синдром розщепленої стопи - мезоаксіальної полідактилії - аномалії нігтів - сенсоневральної приглухуватості"],"definition":"A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described."},"zh":{"name":"足裂畸形-中轴多指综合征","synonyms":["SFMMP","Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome"],"definition":"是一种以肢体畸形为主要特征的罕见遗传综合征，以单侧或双侧足裂畸形、指甲异常、双侧感音神经性听力障碍为特征。此外，还有Mesoaxial多趾畸形。"},"tr":{"name":"Split-foot malformasyon-mezoaksiyal polidaktili sendromu","synonyms":["Split-foot malformasyonu-mezoaksiyal polidaktili-tırnak anormallikleri-sensörinöral işitme kaybı sendromu","SFMMP"]}},"xrefs":[{"source":"OMIM","code":"616890","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014816","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567487","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":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]},{"orpha":79370,"name":"Syndromic nail anomaly","classifications":[156,187]}],"children":[],"genes":[{"symbol":"MAP3K20","name":"mitogen-activated protein kinase kinase kinase 20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26755636[PMID]","hgnc":"17797","ensembl":"ENSG00000091436","omim":"609479","loci":["2q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26755636[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"26755636[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-11-08","source":"26755636[PMID]","terms":[{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005767","label":"1-2 toe complete cutaneous syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010711","label":"1-2 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004692","label":"4-5 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010413","label":"Aplasia/Hypoplasia of the distal phalanx of the 2nd toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010076","label":"Aplasia/Hypoplasia of the distal phalanx of the hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010359","label":"Aplasia/Hypoplasia of the phalanges of the 3rd toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010371","label":"Aplasia/Hypoplasia of the phalanges of the 4th toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010383","label":"Aplasia/Hypoplasia of the phalanges of the 5th toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010112","label":"Mesoaxial foot polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100483","label":"Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal","frequency":"Frequent (79-30%)","criteria":null}]}}