{"orpha":3172,"name":"Eyebrow duplication-syndactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare syndrome with syndactyly characterized by partial duplication of the eyebrows (mainly in the lateral portions) and syndactyly of the fingers and toes. Additional clinical features may include long eyelashes, hypertrichosis, excessive wrinkling of the periorbital skin, congenital lip fibroma, skin hyperelasticity (on the face and chest) and hypermobility of the interphalangeal joints. There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3172/","orphanet_url":"https://www.orpha.net/en/disease/detail/3172","names":{"fr":{"name":"Syndrome de duplication des sourcils-syndactylie","definition":"Syndrome rare associé à une syndactylie, caractérisé par une duplication partielle des sourcils (principalement des parties latérales) et une syndactylie des doigts et des orteils. D'autres signes cliniques peuvent inclure des cils longs, une hypertrichose, une peau périorbitaire excessivement ridée, un fibrome labial congénital, une hyperélasticité cutanée (au niveau du visage et de la poitrine) et une hypermobilité des articulations interphalangiennes. Aucun autre cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Doppelte Augenbrauen-Syndaktylie-Syndrom","definition":"Ein seltenes Syndrom mit Syndaktylie, das durch eine teilweise Verdoppelung der Augenbrauen (hauptsächlich in den seitlichen Bereichen) und Syndaktylie der Finger und Zehen gekennzeichnet ist. Weitere klinische Merkmale können lange Wimpern, Hypertrichose, übermäßige Faltenbildung der periorbitalen Haut, kongenitale Lippenfibrome, Hyperelastizität der Haut (im Gesicht und auf der Brust) und Hypermobilität der Interphalangealgelenke sein. Seit 1989 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de duplicación de cejas-sindactilia","definition":"Es un síndrome poco frecuente con sindactilia caracterizado por la duplicación parcial de las cejas (principalmente de las porciones laterales) y sindactilia en los dedos de las manos y de los pies. Otras características clínicas pueden incluir pestañas largas, hipertricosis, piel periorbitaria excesivamente arrugada, fibroma labial congénito, hiperelasticidad cutánea (en la cara y el tórax) e hipermovilidad de las articulaciones interfalángicas. No se han descrito más casos en la literatura desde 1989."},"it":{"name":"Duplicazione delle sopracciglia - sindattilia"},"nl":{"name":"Wenkbrauwduplicatie - syndactylie-syndroom","definition":"Een zeldzaam syndroom met syndactylie, gekenmerkt door partiële duplicatie van de wenkbrauwen (vooral in de laterale delen) en syndactylie van vingers en tenen. Mogelijke bijkomende klinische kenmerken zijn onder meer lange wimpers, hypertrichose, overmatige rimpels op de periorbitale huid, congenitaal fibroom van lip, hyperelasticiteit van de huid (op aangezicht en borstkas) en hypermobiliteit van interfalangeale gewrichten. Sinds 1989 zijjn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de duplicação das sobrancelhas-sindactilia"},"pl":{"name":"Zdwojenie brwi - syndaktylia"},"cs":{"name":"Syndrom zahrnující dvojité obočí a syndaktylii"},"uk":{"name":"Синдром подвоєння брів - синдактилії","definition":"Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive."},"zh":{"name":"眉重复-并指(趾)综合征"},"tr":{"name":"Kaş duplikasyonu-sindaktili sendromu"}},"xrefs":[{"source":"OMIM","code":"227210","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009200","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518569","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2216","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 recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3359678[PMID]_2736796[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3359678[PMID]_2736796[PMID]"}],"phenotypes":null}