{"orpha":3292,"name":"Tel Hashomer camptodactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome"],"definition":"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3292/","orphanet_url":"https://www.orpha.net/en/disease/detail/3292","names":{"fr":{"name":"Camptodactylie de Tel Hashomer","synonyms":["Syndrome de camptodactylie-hypoplasie musculaire-anomalies squelettiques-anomalies des plis palmaires"],"definition":"La camptodactylie Tel Hashomer est un syndrome rare associant une camptodactylie, une hypoplasie et une faiblesse musculaire, des anomalies squelettiques, une dysmorphie faciale et des anomalies des dermatoglyphes."},"de":{"name":"Tel-Hashomer-Kamptodaktylie-Syndrom","synonyms":["Kamptodaktylie-Syndrom Typ Tel-Hashomer"],"definition":"Das Tel Hashomer-Kamptodaktylie-Syndrom ist selten und gekennzeichnet durch Kamptodaktylie, Muskelhypoplasie und -schwäche, Skelettanomalien, faziale Dysmorphien, und abnorme Dermatoglyphen."},"es":{"name":"Síndrome de camptodactilia de Tel Hashomer","synonyms":["Síndrome de camptodactilia-hipoplasia muscular-anomalías esqueléticas-anomalías de los pliegues palmares"],"definition":"El síndrome de camptodactilia de Tel Hashomer es un síndrome raro caracterizado por camptodactilia, hipoplasia muscular y debilidad, anomalías esqueléticas, dismorfismo facial y dermatoglifos anómalos."},"it":{"name":"Sindrome da camptodattilia di Tel Hashomer","synonyms":["Sindrome da camptodattilia-ipoplasia muscolare-anomalie scheletriche e delle pieghe palmari"]},"nl":{"name":"Camptodactylie-syndroom van Tel Hashomer","synonyms":["Camptodactylie - musculaire hypoplasie - skeletanomalieën - abnormale handlijnen-syndroom"],"definition":"Een zeldzaam syndroom, gekenmerkt door camptodactylie, hypoplasie en zwakte van spier, skeletanomalieën, faciale dysmorfie, en abnormale dermatoglyfen."},"pt":{"name":"Síndrome de camptodactilia Tel Hashomer","synonyms":["Síndrome de camptodactilia-hipoplasia muscular-anomalias esqueléticas-pregas palmares anómalas"],"definition":"A síndrome de camptodactilia Tel Hashomer é uma síndrome rara caracterizada por camptodactilia, hipoplasia e fraqueza muscular, anomalias esqueléticas, dismorfia facial e dermatoglifos anormais."},"pl":{"name":"Zespół kamptodaktylii Tel Hashomer","synonyms":["Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome"]},"cs":{"name":"Syndrom Tel Hashomerovy kamptodaktylie","synonyms":["Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome"]},"uk":{"name":"Синдром камптодактилії Тель Хашомера","synonyms":["Синдром камптодактилії - мязової гіпоплазії - скелетних аномалій - аномальних долонних складок"],"definition":"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics."},"zh":{"name":"Tel Hashomer Camptodacty综合征"},"tr":{"name":"Tel Hashomer kamptodaktili sendromu","synonyms":["Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome"]}},"xrefs":[{"source":"OMIM","code":"211960","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008901","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536953","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859356","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5128","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364568,"name":"Dysostosis with limb anomaly as a major feature","classifications":[147,199]},{"orpha":206634,"name":"Genetic skeletal muscle disease","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}