{"orpha":1307,"name":"Distal limb deficiencies-micrognathia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["10q24 microduplication syndrome","Buttiens-Fryns syndrome"],"definition":"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1307/","orphanet_url":"https://www.orpha.net/en/disease/detail/1307","names":{"fr":{"name":"Syndrome d'anomalie des membres-micrognathie","synonyms":["Microduplication 10q24","Syndrome de Buttiens-Fryns"],"definition":"Le syndrome de réduction distale des membres inférieurs-micrognathie se caractérise par l'association d'une malformation réductionnelle sévère des quatre extrémités distales des membres (oligodactylie), d'une micrognathie, d'une microstomie avec ou sans fente palatine."},"de":{"name":"Distale Gliedmaßenreduktionen-Mikrognathie-Syndrom","definition":"Das Distale Gliedmaßenreduktionen-Mikrogenie-Syndrom ist gekennzeichnet durch das Zusammentreffen symmetrischer, schwerer, distaler Reduktionsfehlbildungen aller vier Gliedmaßen (Oligodaktylie), Mikro-Retrogenie und Mikrostomie mit oder ohne Gaumenspalte."},"es":{"name":"Síndrome de deficiencias en las extremidades distales-micrognatia","synonyms":["Síndrome de Buttiens-Fryns","Síndrome microduplicación 10q24"],"definition":"El síndrome anomalía de las extremidades distales-micrognatia se caracteriza por la asociación de una reducción simétrica grave de las cuatro extremidades distales (oligodactilia), microretrognatia, y microstomía con o sin paladar hendido."},"it":{"name":"Sindrome difetti degli arti-micrognatia","synonyms":["Sindrome da microduplicazione 10q24","Sindrome di Buttiens-Fryns"]},"nl":{"name":"Distale ledemaatdeficiënties - micrognathie-syndroom","synonyms":["10q24-microduplicatiesyndroom","Syndroom van Buttiens-Fryns"],"definition":"Een syndroom, gekenmerkt door de combinatie van symmetrische ernstige lengtedefecten van distale ledematen die alle vier de ledematen aantasten (oligodactylie), microretrognathie, en microstomie met of zonder gespleten gehemelte."},"pt":{"name":"Síndrome de anomalias distais dos membros-micrognatia","synonyms":["Síndrome Buttiens-Fryns"],"definition":"A síndrome defeitos distais dos membros-micrognatia é caracterizado pela combinação de defeitos de redução distal dos membros simétricos e graves afectando todos os quatro membros (oligodactilia), microretrognatia e microstomia com ou sem fenda do palato."},"pl":{"name":"Zespół skróconych kończyn dolnych i małożuchwia","synonyms":["Zespół Buttiensa i Frynsa","Zespół mikroduplikacji 10q24"]},"cs":{"name":"Syndrom zahrnující defekty distálních částí končetin a mikrognatii","synonyms":["Mikroduplikační syndrom 10q24","Buttiensův-Frynsův syndrom","Buttiens-Frynsův syndrom"]},"uk":{"name":"Синдром дистального ураження кінцівок - мікрогнатії","synonyms":["Синдром мікродуплікації 10q24","Синдром Баттьєна-Фринса"],"definition":"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate."},"zh":{"name":"远端肢体缺如-小颌畸形综合征","synonyms":["10q24微重复综合征"]},"tr":{"name":"Distal ekstremite eksiklikleri-mikrognati sendromu","synonyms":["Buttiens-Fryns sendromu","10q24 mikro çoğaltma sendromu"]}},"xrefs":[{"source":"OMIM","code":"246560","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.90","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"223906443"},{"source":"MONDO","code":"0009525","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302673","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3252","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":262914,"name":"Partial duplication of the long arm of chromosome 10 syndrome","classifications":[147,156]}],"children":[],"genes":[],"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_19584065[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"19584065[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012165","label":"Oligodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000171","label":"Microglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Occasional (29-5%)","criteria":null}]}}