{"orpha":3434,"name":"MMEP syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MCOPS8","Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome","Syndromic microphthalmia type 8","Viljoen-Smart syndrome"],"definition":"The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (<i>SNX3</i>; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3434/","orphanet_url":"https://www.orpha.net/en/disease/detail/3434","names":{"fr":{"name":"Syndrome MMEP","synonyms":["MCOPS8","Microphtalmie syndromique type 8","Syndrome de Viljoen-Smart","Syndrome de microcéphalie-microphtalmie-ectrodactylie des membres inférieurs-prognathisme"],"definition":"Le syndrome MMEP est une forme syndromique congénitale du syndrome des mains et pieds fendus et est caractérisé par une microcéphalie, une microphtalmie, une ectrodactylie des membres inférieurs et un prognathisme. Un déficit intellectuel a été rapporté. Le syndrome MMEP est très rare, mais sa prévalence reste inconnue. L'étiologie n'est pas totalement connue. Le syndrome MMEP serait lié à une anomalie du gène codant pour la nexine 3 (<i>SNX3</i>; 6q21), mais cela n'a pas été confirmé dans des études récentes."},"de":{"name":"MMEP-Syndrom","synonyms":["MCOPS8","Microcephaly - Mikrophthalmie - Ektrodaktylie der unteren Extremitäten - Prognathie","Mikrophthalmie, syndromale, Typ 8","Viljoen-Smart-Syndrom"]},"es":{"name":"Síndrome MMEP","synonyms":["Microcefalia-microftalmia-ectrodactilia de extremidades inferiores-prognatismo","Microftalmia sindrómica tipo 8","Síndrome de Viljoen-Smart"],"definition":"Es una forma sindrómica congénita de malformación de mano hendida-pie hendido. Se caracteriza por microcefalia, microftalmía, ectrodactilia de miembros inferiores y prognatismo. También se ha descrito déficit intelectual. El síndrome MMEP es un trastorno muy poco frecuente, aunque se desconoce la prevalencia exacta. La etiología no se comprende completamente. Se ha demostrado que la interrupción del gen clasificador de la nexina 3 (<i>SNX3</i>; 6q21) desempeña un papel causal en MMEP, aunque no se ha podido confirmar."},"it":{"name":"Sindrome MMEP","synonyms":["MCOPS8","Microcefalia - microftalmia - ectrodattilia degli arti inferiori - prognatismo","Microftalmia sindromica, tipo 8","Sindrome di Viljoen-Smart"]},"nl":{"name":"MMEP-syndroom","synonyms":["MCOPS8","Microcefalie - microftalmie - ectrodactylie van onderste ledematen - prognathie-syndroom","Syndromale microftalmie type 8","Syndroom van Viljoen-Smart"],"definition":"Een congenitale syndromale vorm van gespleten hand/voet-malformatie (SHFM). MMEP-syndroom wordt gekenmerkt door microcefalie, microftalmie, ectrodactylie van onderste ledematen, en prognathie. Intellectuele achterstand werd gerapporteerd. MMEP-syndroom wordt beschouwd als een zeer zeldzame aandoening, maar de precieze prevalentie is vooralsnog niet gekend. De etiologie is niet goed gekend. Er werd aangetoond dat ontregeling van het gen voor sorterend nexine 3 (<i>SNX3</i>; 6q21) een causale rol speelt in MMEP, hoewel dit niet werd bevestigd in recente studies."},"pt":{"name":"Síndrome MMEP","synonyms":["MCOPS8","Microftalmia sindrómica tipo 8","Síndrome Viljoen-Smart","Síndrome de microcefalia-microftalmia-ectrodactilia dos membros inferiores-prognatismo"],"definition":"A síndrome MMEP é uma forma sindrómica congénita de malformação da fractura da mão ou do pé (SHFM)."},"pl":{"name":"Zespół MMEP","synonyms":["Małogłowie - małoocze - ektrodaktylia kończyn dolnych - prognatyzm","MCOPS8","Syndromiczne małoocze typu 8 8","Zespół Viljoena i Smarta"]},"cs":{"name":"MMEP syndrom","synonyms":["MCOPS8","Syndromická mikroftalmie, typ 8","Syndrom zahrnující mikrocefalii, mikroftalmii, ektrodaktylii dolních končetin a prognatii","Viljoenův-Smartův syndrom","Viljoen-Smartův syndrom"]},"uk":{"name":"Синдром ММЕР","synonyms":["MCOPS8","Синдром мікроцефалії-мікрофтальмії-екстродактилії нижніх кінцівок- прогнатизму","Синдромна мікрофтальмія типу 8","Синдром Вілджоена-Смарта"],"definition":"The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (<i>SNX3</i>; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies."},"zh":{"name":"MMEP综合征","synonyms":["小头-小眼-先天性下肢缺指-凸颌综合征"]},"tr":{"name":"MMEP sendromu","synonyms":["MCOPS8","Viljoen-Smart sendromu","Sendromik mikroftalmi tip 8","Alt ekstremite mikrosefali-mikroftalmi-ektrodaktili-öne çıkık çene sendromu"]}},"xrefs":[{"source":"OMIM","code":"601349","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"245558058"},{"source":"MONDO","code":"0011045","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537686","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832440","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3693","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}