{"orpha":247820,"name":"Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247820/","orphanet_url":"https://www.orpha.net/en/disease/detail/247820","names":{"fr":{"name":"Syndrome de dysplasie ectodermique-pili torti-syndactylie cutanée","definition":"Dysplasie ectodermique rare d'origine génétique caractérisée par des cheveux, des sourcils et des cils clairsemés ou absents (en forme de pili torti lorsqu'ils sont présents), des dents coniques très espacées avec des couronnes coniques en forme de cheville, une hypoplasie de l'émail et une hyperkératose palmoplantaire, associées à une syndactylie cutanée partielle affectant les mains et les pieds."},"de":{"name":"Ektodermale Dysplasie-Pili-Torti-Syndaktylie-Syndrom","synonyms":["EDSS1"]},"es":{"name":"Síndrome de displasia ectodérmica-sindactilia","synonyms":["EDSS","EDSS1"],"definition":"Es un síndrome de displasia ectodérmica, genético y poco frecuente, caracterizado por pelo escaso o ausente en cuero cabelludo, cejas y pestañas (con los cabellos ensortijados), dientes cónicos y muy separados en forma de clavija, coronas cónicas e hipoplasia del esmalte, así como hiperqueratosis palmoplantar, junto con sindactilia cutánea parcial en manos y pies."},"it":{"name":"Sindrome displasia ectodermica-pili torti-sindattilia cutanea","definition":"La sindrome che associa la displasia ectodermica e la sindattilia è una displasia ectodermica genetica rara, caratterizzata da capelli, sopracciglia e ciglia rade (con pili torti) o assenti, denti di forma conica iperdistanziati con corone coniche ed assottigliate e ipoplasia dello smalto, ipercheratosi palmoplantare, associati a sindattilia cutanea parziale delle mani e dei piedi."},"nl":{"name":"Ectodermale dysplasie - pili torti - cutane syndactylie-syndroom","definition":"Ectodermale dysplasie - syndactylie-syndroom is een zeldzaam, genetisch ectodermale dysplasiesyndroom dat gekarakteriseerd wordt door schaarsheid tot afwezigheid van hoofdhaar, wenkbrauwen en wimpers (met pili torti indien aanwezig), ver uit elkaar staande en conische tanden met pinvormige, conische kronen en glazuurhypoplasie, en palmoplantaire hyperkeratose, geassocieerd met partiële cutane syndactylie aan handen en voeten."},"pt":{"name":"Síndrome de displasia ectodérmica-pili torti-sindactilia cutânea"},"pl":{"name":"Zespół dysplazja ektodermalna - syndaktylia","synonyms":["EDSS","EDSS1","Zespół dysplazji ektodermalnej - pili torti - syndaktylii skórnej"],"definition":"*Zespół dysplazja ektodermalna - syndaktylia to rzadki, genetycznie uwarunkowany zespół dysplazji ektodermalnej, który charakteryzuje się brakiem lub rzadkim owłosieniem skóry głowy, brwi i rzęs (jeśli włosy są obecne, przybierają postać pili torti), szeroko rozstawionymi, stożkowatymi zębami z koronami o kształcie kołka i hipoplazją szkliwa, nadmiernym rogowaceniem wewnętrznych powierzchni dłoni i podeszw stóp, z towarzyszącą częściową skórną syndaktylią (palcozrostem) dłoni i stóp.inf brsup inf brsup"},"cs":{"name":"Syndrom zahrnující ektodermální dysplázii a syndaktylii","synonyms":["EDSS","ESSS1"]},"uk":{"name":"Синдром ектодермальної дисплазії-pili torti-шкірної синдактилії","definition":"Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet."},"zh":{"name":"外胚层发育不良伴并指综合症","synonyms":["EDSS1"],"definition":"外胚层发育不良-并指（趾）畸形综合征是一种罕见的遗传性外胚层发育不良综合征，其特征是头发、眉毛和睫毛稀疏至缺失（伴毛发卷曲）、间隔宽的锥形牙齿、钉状锥形牙冠、牙釉质发育不良和掌跖角化过度，伴有手足部分皮肤并指畸形。"},"tr":{"name":"Ektodermal displazi-sindaktili sendrom","synonyms":["EDSS","EDSS1"]}},"xrefs":[{"source":"OMIM","code":"613573","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C4749852","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]}],"children":[],"genes":[{"symbol":"NECTIN4","name":"nectin cell adhesion molecule 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20691405[PMID]_21346770[PMID]","hgnc":"19688","ensembl":"ENSG00000143217","omim":"609607","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"25529316[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25529316[PMID]"}],"phenotypes":null}