{"orpha":3168,"name":"Sillence syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3168/","orphanet_url":"https://www.orpha.net/en/disease/detail/3168","names":{"fr":{"name":"Syndrome de Sillence","definition":"Syndrome génétique rare avec des malformations des membres comme manifestation majeure, caractérisé par une brachydactylie et un symphalangisme distal, des pieds creux et une scoliose, la taille étant normale. Aucun cas n'a été décrit dans la littérature depuis 1978."},"de":{"name":"Sillence-Syndrom","definition":"Ein seltenes genetisches Syndrom mit Fehlbildungen der Gliedmaßen als Hauptmerkmal, gekennzeichnet durch Brachydaktylie und distalen Symphalangismus, Pes cavus, Skoliose und normale Statur. Seit 1978 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Sillence","definition":"Es un síndrome genético poco frecuente con malformaciones de las extremidades como hallazgo principal y caracterizado por braquidactilia y sinfalangismo distal, pie cavo, escoliosis y estatura normal. No ha habido más descripciones en la literatura desde 1978."},"it":{"name":"Sindrome di Sillence"},"nl":{"name":"Syndroom van Sillence","definition":"Een zeldzaam genetisch syndroom met ledemaatmalformaties als belangrijk kenmerk, gekenmerkt door brachydactylie en distaal symfalangisme, pes cavus (holvoet), scoliose, en normale gestalte. Sinds 1978 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Sillence","synonyms":["Síndrome de braquidactilia-sinfalangismo"],"definition":"Síndrome genética rara com malformações de membros como característica principal caracterizada por braquidactilia e sinfalangismo distal, pes cavus, escoliose e estatura normal. Não houve mais descrições na literatura desde 1978."},"pl":{"name":"Zespół Sillence","synonyms":["Zespół brachydaktylia-symfalangizm"],"definition":"Rzadki zespół genetyczny z wadami rozwojowymi kończyn jako dominującą cechą, charakteryzujący się brachydaktylią i dystalnym symfalangizmem, wydrążonymi stopami, skoliozą i prawidłowym wzrostem. Od 1978 roku w literaturze brak dalszych opisów."},"cs":{"name":"Sillencův syndrom","synonyms":["Syndrom zahrnující brachydaktylii a symfalangismus"]},"uk":{"name":"Синдром Сілленса","synonyms":["Синдром брахідактилії-симфалангізму"],"definition":"A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978."},"zh":{"name":"Sillence综合征","synonyms":["短指（趾）畸形-指趾关节粘连综合征"]},"tr":{"name":"Sillence sendromu","synonyms":["Brakidaktili-semfalangizm sendromu"]}},"xrefs":[{"source":"OMIM","code":"113450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007227","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537338","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862092","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4869","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"671485[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-06","source":"671485[PMID]","terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010239","label":"Aplasia of the middle phalanx of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003180","label":"Flat acetabular roof","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009832","label":"Abnormal distal phalanx morphology of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009834","label":"Abnormal proximal phalanx morphology of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010052","label":"Abnormality of the proximal phalanx of the hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001783","label":"Broad metatarsal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001782","label":"Bulbous tips of toes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006170","label":"Chess-pawn distal phalanges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008419","label":"Intervertebral disc degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008818","label":"Large iliac wings","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004679","label":"Large tarsal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000300","label":"Oval face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001533","label":"Slender build","frequency":"Occasional (29-5%)","criteria":null}]}}