{"orpha":79373,"name":"Ectodermal dysplasia syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Ectodermal dysplasia"],"definition":"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79373/","orphanet_url":"https://www.orpha.net/en/disease/detail/79373","names":{"fr":{"name":"Dysplasie ectodermique","synonyms":["Syndrome de dysplasie ectodermique"],"definition":"Le terme « dysplasie ectodermique » définit un groupe hétérogène de maladies héréditaires affectant la peau et ses annexes. Elles sont caractérisées par le développement anormal d'au moins deux dérivés ectodermiques, incluant les cheveux, les dents, les ongles, les glandes sudoripares et leur structures modifiées (cérumineuses, glandes mammaires et ciliaires). Le spectre des manifestations cliniques est large et peut inclure des signes additionnels issus d'autres structures endo-, méso- et ectodermiques."},"de":{"name":"Ektodermale Dysplasie","synonyms":["ED"],"definition":"Der Terminus 'Ektodermale Dysplasie' definiert eine heterogene Gruppe erblicher Krankheiten der Haut und ihrer Anhänge mit gestörter Entwicklung von 2 oder mehr Derivaten des Ektoderms: Haare, Zähne, Nägel, Schweißdrüsen, Talgdrüsen, Brustdrüsen, Wimperndrüsen. Das Spektrum der klinischen Ausprägung ist weit und kann Symptome anderer ektodermaler, mesodermaler und endodermaler Strukturen einschließen."},"es":{"name":"Síndrome de displasia ectodérmica","definition":"El término ''displasia ectodérmica'' define un grupo heterogéneo de enfermedades hereditarias de la piel y sus anejos, que se caracteriza por defectos en el desarrollo de dos o más derivados ectodérmicos, que incluyen el cabello, los dientes, las uñas, las glándulas sudoríparas y sus estructuras modificadas (es decir, las glándulas ceruminosas, mamarias y ciliares). El espectro de manifestaciones clínicas es amplio y puede incluir manifestaciones adicionales de otras estructuras ectodérmicas, mesodérmicas y endodérmicas."},"it":{"name":"Sindrome da displasia ectodermica","definition":"Il termine \"displasia ectodermica\" definisce un gruppo eterogeneo di malattie ereditarie della cute e delle sue appendici, caratterizzato dallo sviluppo anomalo di due o più derivati ectodermici, compresi i capelli, i denti, le unghie, le ghiandole sudoripare e le loro strutture modificate (ghiandole ceruminose, mammarie e ciliari). Lo spettro dei segni clinici è ampio e può comprendere altri segni a carico di altre strutture ectodermiche, mesodermiche ed endodermiche."},"nl":{"name":"Ectodermale dysplasiesyndroom","definition":"De term ''ectodermale dysplasie'' definieert een heterogene groep van erfelijke aandoeningen van de huid en aanhangsels van de huid die worden gekarakteriseerd door een verstoorde ontwikkeling van twee of meer ectodermale afleidingen, waaronder haar, tanden, nagels, zweetklieren en hun gemodificeerde structuren (i.e. cerumineuze, melk-, en ciliaire klieren). Het spectrum van klinische manifestaties is breed en kan bijkomende manifestaties van andere ectodermale, mesodermale en endodermale structuren omvatten."},"pt":{"name":"Displasia ectodérmica sindrómica"},"pl":{"name":"Zespół dysplazji ektodermalnej","synonyms":["Ectodermal dysplasia"]},"cs":{"name":"Ektodermální dysplázie","synonyms":["Syndrom ektodermální dysplázie"]},"uk":{"name":"Синдром ектодермальної дисплазії","synonyms":["Ектодермальна дисплазія"],"definition":"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."},"zh":{"name":"外胚层发育不良综合征","synonyms":["外胚层发育不良"]},"tr":{"name":"Ektodermal displazi sendromu","synonyms":["Ektodermal displazi"]}},"xrefs":[{"source":"ICD-11","code":"LD27.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1156567558"},{"source":"MONDO","code":"0019287","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19287","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004476","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0013575","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6317","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010452","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":3357,"name":"OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly","status":"inactive"},{"type":"Referred to","orpha":3417,"name":"OBSOLETE: Van den Bosch syndrome","status":"inactive"},{"type":"Referred to","orpha":90339,"name":"OBSOLETE: Rosselli-Gulienetti syndrome","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79362,"name":"Epidermal appendage anomaly","classifications":[187]},{"orpha":183447,"name":"Genetic epidermal appendage anomaly","classifications":[156]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]}],"children":[{"orpha":1133,"name":"AREDYLD syndrome","type":"Malformation syndrome"},{"orpha":952,"name":"Acrofacial dysostosis, Weyers type","type":"Malformation syndrome"},{"orpha":1005,"name":"Alopecia-contractures-dwarfism-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":1028,"name":"Amelo-onycho-hypohidrotic syndrome","type":"Malformation syndrome"},{"orpha":1946,"name":"Amelocerebrohypohidrotic syndrome","type":"Malformation syndrome"},{"orpha":1071,"name":"Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome","type":"Malformation syndrome"},{"orpha":69125,"name":"Anonychia with flexural pigmentation","type":"Malformation syndrome"},{"orpha":3200,"name":"Arthrogryposis-ectodermal dysplasia syndrome","type":"Malformation syndrome"},{"orpha":1010,"name":"Autosomal dominant palmoplantar keratoderma and congenital alopecia","type":"Disease"},{"orpha":1366,"name":"Autosomal recessive palmoplantar keratoderma and congenital alopecia","type":"Disease"},{"orpha":1231,"name":"Barber-Say syndrome","type":"Malformation syndrome"},{"orpha":1234,"name":"Bartsocas-Papas syndrome","type":"Malformation syndrome"},{"orpha":1997,"name":"Blepharo-cheilo-odontic syndrome","type":"Malformation syndrome"},{"orpha":1262,"name":"Böök syndrome","type":"Malformation syndrome"},{"orpha":1401,"name":"CHAND syndrome","type":"Malformation syndrome"},{"orpha":3474,"name":"CHIME syndrome","type":"Malformation syndrome"},{"orpha":1340,"name":"Cardiofaciocutaneous syndrome","type":"Malformation syndrome"},{"orpha":175,"name":"Cartilage-hair 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syndrome","type":"Malformation syndrome"},{"orpha":1515,"name":"Cranioectodermal dysplasia","type":"Malformation syndrome"},{"orpha":2930,"name":"Cronkhite-Canada syndrome","type":"Disease"},{"orpha":307766,"name":"Curly hair-acral keratoderma-caries syndrome","type":"Disease"},{"orpha":1563,"name":"Dahlberg-Borer-Newcomer syndrome","type":"Malformation syndrome"},{"orpha":3220,"name":"Deafness-enamel hypoplasia-nail defects syndrome","type":"Malformation syndrome"},{"orpha":3231,"name":"Deafness-onychodystrophy syndrome","type":"Clinical group"},{"orpha":1657,"name":"Dermatoosteolysis, Kirghizian type","type":"Malformation syndrome"},{"orpha":86920,"name":"Dermatopathia pigmentosa reticularis","type":"Disease"},{"orpha":1660,"name":"Dermoodontodysplasia","type":"Malformation syndrome"},{"orpha":99688,"name":"Dermotrichic syndrome","type":"Malformation syndrome"},{"orpha":235,"name":"Dubowitz syndrome","type":"Malformation syndrome"},{"orpha":98609,"name":"EEC syndrome and related disorders","type":"Category"},{"orpha":1897,"name":"EEM syndrome","type":"Malformation syndrome"},{"orpha":708036,"name":"Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth","type":"Malformation syndrome"},{"orpha":69083,"name":"Ectodermal dysplasia with natal teeth, Turnpenny type","type":"Malformation syndrome"},{"orpha":708043,"name":"Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples","type":"Malformation syndrome"},{"orpha":1818,"name":"Ectodermal dysplasia, trichoodontoonychial type","type":"Malformation syndrome"},{"orpha":1806,"name":"Ectodermal dysplasia-blindness syndrome","type":"Malformation syndrome"},{"orpha":247827,"name":"Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome","type":"Malformation syndrome"},{"orpha":1812,"name":"Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome","type":"Malformation syndrome"},{"orpha":708014,"name":"Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment syndrome","type":"Malformation syndrome"},{"orpha":247820,"name":"Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome","type":"Malformation syndrome"},{"orpha":1883,"name":"Ectodermal dysplasia-sensorineural deafness syndrome","type":"Malformation syndrome"},{"orpha":158668,"name":"Ectodermal dysplasia-skin fragility syndrome","type":"Disease"},{"orpha":289,"name":"Ellis-Van Creveld syndrome","type":"Malformation syndrome"},{"orpha":2092,"name":"Focal dermal hypoplasia","type":"Malformation syndrome"},{"orpha":398166,"name":"Focal facial dermal dysplasia","type":"Malformation syndrome"},{"orpha":99672,"name":"Fried's tooth and nail syndrome","type":"Malformation syndrome"},{"orpha":2067,"name":"GAPO syndrome","type":"Malformation syndrome"},{"orpha":2026,"name":"Gingival fibromatosis-hypertrichosis syndrome","type":"Malformation syndrome"},{"orpha":2108,"name":"Hallermann-Streiff syndrome","type":"Malformation syndrome"},{"orpha":189,"name":"Hidrotic ectodermal dysplasia","type":"Disease"},{"orpha":1808,"name":"Hidrotic ectodermal dysplasia, Christianson-Fourie type","type":"Malformation syndrome"},{"orpha":1809,"name":"Hidrotic ectodermal dysplasia, Halal type","type":"Malformation syndrome"},{"orpha":2220,"name":"Hypertrichosis cubiti","type":"Malformation syndrome"},{"orpha":2222,"name":"Hypertrichosis lanuginosa congenita","type":"Disease"},{"orpha":2228,"name":"Hypodontia-dysplasia of nails syndrome","type":"Malformation syndrome"},{"orpha":685067,"name":"Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome","type":"Disease"},{"orpha":238468,"name":"Hypohidrotic ectodermal dysplasia","type":"Disease"},{"orpha":98813,"name":"Hypohidrotic ectodermal dysplasia with immunodeficiency","type":"Disease"},{"orpha":1882,"name":"Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome","type":"Malformation syndrome"},{"orpha":69088,"name":"Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome","type":"Disease"},{"orpha":1573,"name":"Hypotrichosis with juvenile macular degeneration","type":"Malformation syndrome"},{"orpha":2266,"name":"Hypotrichosis-intellectual disability, Lopes type","type":"Disease"},{"orpha":307936,"name":"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome","type":"Disease"},{"orpha":730318,"name":"ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome","type":"Disease"},{"orpha":2269,"name":"Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome","type":"Disease"},{"orpha":464,"name":"Incontinentia pigmenti","type":"Malformation syndrome"},{"orpha":2315,"name":"Johanson-Blizzard syndrome","type":"Malformation syndrome"},{"orpha":2316,"name":"Johnson neuroectodermal syndrome","type":"Malformation syndrome"},{"orpha":477,"name":"KID 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syndrome","type":"Malformation syndrome"},{"orpha":2036,"name":"Scalp-ear-nipple syndrome","type":"Malformation syndrome"},{"orpha":50944,"name":"Schöpf-Schulz-Passarge syndrome","type":"Disease"},{"orpha":293165,"name":"Skin fragility-woolly hair-palmoplantar keratoderma syndrome","type":"Disease"},{"orpha":3291,"name":"Teebi-Shaltout syndrome","type":"Malformation syndrome"},{"orpha":2251,"name":"Thumb deformity-alopecia-pigmentation anomaly syndrome","type":"Malformation syndrome"},{"orpha":3352,"name":"Tricho-dento-osseous syndrome","type":"Malformation syndrome"},{"orpha":1264,"name":"Tricho-retino-dento-digital syndrome","type":"Malformation syndrome"},{"orpha":3351,"name":"Trichodental syndrome","type":"Malformation syndrome"},{"orpha":3353,"name":"Trichodermodysplasia-dental alterations syndrome","type":"Malformation syndrome"},{"orpha":79129,"name":"Trichodysplasia-amelogenesis imperfecta syndrome","type":"Malformation syndrome"},{"orpha":3363,"name":"Trichomegaly-retina pigmentary degeneration-dwarfism syndrome","type":"Malformation syndrome"},{"orpha":3355,"name":"Trichoodontoonychial dysplasia","type":"Malformation syndrome"},{"orpha":324764,"name":"Trichorhinophalangeal syndrome","type":"Clinical group"},{"orpha":33364,"name":"Trichothiodystrophy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"6-9 / 10 000","value":0.0,"area":"Worldwide","status":"Validated","source":"15468153[PMID]"}],"phenotypes":null}