{"orpha":50944,"name":"Schöpf-Schulz-Passarge syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Eccrine tumors-ectodermal dysplasia","Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome","Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome","Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome","SSPS"],"definition":"Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-50944/","orphanet_url":"https://www.orpha.net/en/disease/detail/50944","names":{"fr":{"name":"Syndrome de Schöpf-Schulz-Passarge","synonyms":["SSPS","SSSP","Syndrome d'hyperkératose palmoplantaire-kystes des paupières-hypodontie-hypotrichose","Syndrome de kératodermie palmoplantaire-kystes des paupières-hypodontie-hypotrichose","Tumeurs eccrines-dysplasie ectodermique"],"definition":"Le syndrome de Schöpf-Schulz-Passarge (SSPS) est une dysplasie ectodermique rare à transmission autosomique récessive caractérisée par des hidrocystomes apocrines multiples des paupières, une kératodermie palmoplantaire, une hypotrichose, une hypodontie et une dystrophie des ongles."},"de":{"name":"Schöpf-Schulz-Passarge-Syndrom","synonyms":["Ekkrine Tumore - ektodermale Dysplasie","Palmoplantarkeratose-zystische Augenlider-Hypodontie-Hypotrichose-Syndrom","SSPS"],"definition":"Das Schöpf-Schulz-Passarge-Syndrom (SSPS) ist eine seltene, autosomal-rezessiv vererbte ektodermale Dysplasie mit multiplen Hydrokystomen der apokrinen Drüsen der Augenlider, mit palmoplantarer Keratodermie, Hypotrichose, Hypodontie und Nageldystrophie."},"es":{"name":"Síndrome de Schöpf-Schulz-Passarge","synonyms":["SSPS","Síndrome de hiperqueratosis palmoplantar-párpados quísticos-hipodoncia-hipotricosis","Síndrome de queratodermia palmoplantar-párpados quísticos-hipodoncia-hipotricosis","Síndrome de queratosis palmoplantar-párpados quísticos-hipodoncia-hipotricosis","Tumores ecrinos-displasia ectodérmica"],"definition":"El síndrome de Schöpf-Schulz-Passarge (SSSP) es una displasia ectodérmica autosómica recesiva rara caracterizada por múltiples hidrocistomas apocrinos en los párpados, queratodermia palmoplantar, hipotricosis, hipodoncia y distrofia de las uñas."},"it":{"name":"Sindrome di Schöpf-Schulz-Passarge","synonyms":["Cheratoderma palmoplantare - palpebre cistiche - ipodontia - ipotricosi","Cheratosi palmoplantare - palpebre cistiche - ipodontia - ipotricosi","Ipercheratosi palmoplantare - palpebre cistiche - ipodontia - ipotricosi","SSPS","Tumori eccrini - displasia ectodermica"],"definition":"La sindrome di Schöpf-Schulz-Passarge (SSPS) è una displasia ectodermica rara autosomica recessiva caratterizzata da idrocistomi apocrini multipli delle palpebre, cheratoderma palmoplantare, ipotricosi, ipodontia e distrofia ungueale."},"nl":{"name":"Syndroom van Schöpf-Schulz-Passarge","synonyms":["Eccriene tumoren - ectodermale dysplasie","Keratosis palmoplantaris - cystische oogleden - hypodontie - hypotrichose-syndroom","Palmoplantaire hyperkeratose - cystische oogleden - hypodontie - hypotrichose-syndroom","Palmoplantaire keratodermie - cystische oogleden - hypodontie - hypotrichose-syndroom","SSPS"],"definition":"Schöpf-Schulz-Passargesyndroom (SSPS) is een zeldzame autosomaal recessieve ectodermale dysplasie die gekenmerkt wordt door meervoudige apocriene hidrocystomen van de oogleden, palmoplantaire keratodermie, hypotrichose, hypodontie en nageldystrofie."},"pt":{"name":"Síndrome Schöpf-Schulz-Passarge","synonyms":["SSPS","Síndrome de queratose palmoplantar-pálpebras quísticas-hipodontia-hipotricose","Tumores écrinos-displasia ectodérmica"]},"pl":{"name":"Zespół Schopfa, Schulza i Passarge'a","synonyms":["Guzy ekrynowe-dysplazja ektodermalna","Hiperkeratoza dłoniowo-podeszwowa - torbiele powiek - hipodoncja - hipotrichoza","Rogowiec dłoni i stóp - torbiele powiek - hipodoncja - hipotrichoza","Rogowiec dłoniowo-podeszwowy - torbiele powiek - hipodoncja - hipotrichoza","SSPS"]},"cs":{"name":"Schöpfův-Schulzův-Passargův syndrom","synonyms":["Ekrinní nádory a ektodermální dysplázie","SSPS","Syndrom zahrnující palmoplantární keratózu, cysty očních víček, hypodoncii a hypotrichózu","Syndrom zahrnující palmoplantární hypokeratózu, cysty očních víček, hypodoncii a hypotrichózu","Syndrom zahrnující palmoplantární keratoderma, cysty očních víček, hypodoncii a hypotrichózu","Schöpf-Schulz-Passargův syndrom"]},"uk":{"name":"Синдром Шепфа-Шульца-Пассаржа","synonyms":["Екринні пухлини - ектодермальна дисплазія","Кератоз долонь-кістозні повіки-гіподонтія-гіпотрихозний синдром","Долонно-піднебінний гіперкератоз-кістозні повіки-гіподонтія-гіпотрихозний синдром","Долонно-підошовна кератодермія-кістозні повіки-гіподонтія-гіпотрихозний синдром","SSPS"],"definition":"Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy."},"zh":{"name":"Sch÷pf-Schulz-Passarge综合征","synonyms":["掌跖角化过度-眼睑囊瘤-牙发育不全-毛发稀少综合症"]},"tr":{"name":"Schöpf-Schulz-Passarge sendromu","synonyms":["SSPS","Ekrin tümörleri-ektodermal displazi","Keratoz palmoplantaris-kistik göz kapakları-hipodonti-hipotrikoz sendromu","Palmoplantar keratoderma-kistik göz kapakları-hipodonti-hipotrikoz sendromu","Palmoplantar hiperkeratoz-kistik göz kapakları-hipodonti-hipotrikoz sendromu"]}},"xrefs":[{"source":"OMIM","code":"224750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"441760957"},{"source":"MONDO","code":"0009145","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565607","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857069","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":307804,"name":"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]}],"children":[],"genes":[{"symbol":"WNT10A","name":"Wnt family member 10A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19559398[PMID]","hgnc":"13829","ensembl":"ENSG00000135925","omim":"606268","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000968","label":"Ectodermal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007380","label":"Facial telangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000320","label":"Bird-like facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null}]}}