{"orpha":2564,"name":"Tetramelic monodactyly","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Sommer-Hines syndrome"],"definition":"Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2564/","orphanet_url":"https://www.orpha.net/en/disease/detail/2564","names":{"fr":{"name":"Monodactylie tétramélique","synonyms":["Syndrome de Sommer-Hines"],"definition":"Anomalie congénitale rare des membres, d'origine génétique, caractérisée par la présence d'un seul doigt sur les quatre extrémités. L'anomalie est généralement isolée, mais l'apparition concomitante d'autres anomalies a été décrite, y compris l'aplasie et l'hypoplasie d'autres structures squelettiques des mains et des pieds. Aucun cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"Monodaktylie, tetramelische","synonyms":["Sommer-Hines-Syndrom"]},"es":{"name":"Monodactilia tetramélica","synonyms":["Síndrome de Sommer-Hines"],"definition":"Es un trastorno malformativo de las extremidades, congénito, genético y poco frecuente, caracterizado por la presencia de un sólo dedo en las cuatro extremidades. La malformación suele ser aislada, aunque se han descrito defectos aplásicos e hipoplásicos en las estructuras esqueléticas restantes de manos y pies. No se han descrito nuevos casos en la literatura desde 1992."},"it":{"name":"Monodattilia tetramelica","synonyms":["Sindrome di Sommer-Hines"],"definition":"La monodattilia tetramelica è una malformazione congenita rara degli arti, di origine genetica, caratterizzata dalla presenza di un unico dito alle quattro estremità. Di solito la malformazione è isolata, ma sono stati descritti pazienti con aplasia e ipoplasia di altre porzioni dello scheletro delle mani e dei piedi. Non sono stati descritti nuovi casi dopo il 1992."},"nl":{"name":"Tetramelische monodactylie","synonyms":["Syndroom van Sommer-Hines"],"definition":"Tetramelische monodactylie is een zeldzame, genetische, congenitale malformatie van de ledematen die wordt gekarakteriseerd door de aanwezigheid van een enkele vinger/teen op elk van de vier ledematen. De malformatie is doorgaans geïsoleerd, hoewel aplastische en hypoplastische defecten aan de overblijvende delen van het skelet van handen en voeten ook reeds werden gerapporteerd. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Monodactilia tetramélica","synonyms":["Síndrome Sommer-Hines"]},"pl":{"name":"Monodaktylia tetrameliczna","synonyms":["Zespół Sommera i Hinesa"],"definition":"*Monodaktylia tetrameliczna to rzadkie, genetycznie uwarunkowane, wrodzone zaburzenie rozwojowe kończyn, które charakteryzuje się obecnością pojedynczego palca na wszystkich czterech kończynach. Wada zazwyczaj jest izolowana, jednak opisywano równoczesne występowanie innych wad, w tym aplazje i hipoplazję pozostałych struktur szkieletu dłoni i stóp. Od 1992 r. nie ma nowych opisów w literaturze."},"cs":{"name":"Tetramelická monodaktylie","synonyms":["Sommerové-Hinesové syndrom","Sommer-Hinesové syndrom"]},"uk":{"name":"Тетрамелічна монодактилія","synonyms":["Синдром Зоммера-Хайнса"],"definition":"Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992."},"zh":{"name":"四肢单指畸形","synonyms":["Sommer-Hines综合征"]},"tr":{"name":"Tetramelik monodaktili","synonyms":["Sommer-Hines sendromu"]}},"xrefs":[{"source":"OMIM","code":"187510","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008544","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566066","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861233","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3707","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1308366[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-05","source":null,"terms":[{"hpo":"HP:0012165","label":"Oligodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null}]}}