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Ectodermal dysplasia syndrome

rare

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.

Identifiers
MONDO:0019287 Orphanet:79373
Part of
Hereditary epidermal appendage anomalyHereditary skin disorderSyndromic disease
Also known as
ectodermal dysplasia · ectodermal dysplasia (select examples) · Ectodermal Dysplasias

Subtypes

All diseases Rare only
Disease Subtypes
Dyskeratosis congenita 20
Hypohidrotic ectodermal dysplasia 10
Trichothiodystrophy 10
Cranioectodermal dysplasia 7
Cardiofaciocutaneous syndrome 4
Focal facial dermal dysplasia 4
Pure hair and nail ectodermal dysplasia 4
CTSC-related disorder 3
KID syndrome 3
Blepharocheilodontic syndrome 3
Ectodermal dysplasia WNT10A related 3
EDA-related ectodermal dysplasia 2
Ectodermal dysplasia-syndactyly syndrome 2
Hypertrichosis lanuginosa congenita 2
Trichorhinophalangeal syndrome 2
Ellis-van Creveld syndrome 1
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
Cartilage-hair hypoplasia 1
Oculodentodigital dysplasia 1
ADULT syndrome
AREDYLD syndrome
Ackerman syndrome
Barber-Say syndrome
Bartsocas-Papas syndrome 1
Brunoni syndrome
Böök syndrome
CHIME syndrome
Clouston syndrome
Cronkhite-Canada syndrome
Curly hair - acral keratoderma - caries syndrome
Dahlberg-Borer-Newcomer syndrome
Dubowitz syndrome
EEM syndrome
Fontaine progeroid syndrome
Fried's tooth and nail syndrome
GAPO syndrome
Ito hypomelanosis
Johnson neuroectodermal syndrome
Lelis syndrome
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Marshall syndrome
Naegeli-Franceschetti-Jadassohn syndrome
Rapp-Hodgkin syndrome
Schinzel-Giedion syndrome
Stern-Lubinsky-Durrie syndrome
Teebi-Shaltout syndrome
Toriello-Lacassie-Droste syndrome
Acrofacial dysostosis, Weyers type
Alopecia - contractures - dwarfism - intellectual disability syndrome
Alves Castelo dos Santos syndrome
Amelocerebrohypohidrotic syndrome
Ameloonychohypohidrotic syndrome
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Anonychia with flexural pigmentation
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arthrogryposis-ectodermal dysplasia-other anomalies syndrome
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant trichoodontoonychodysplasia-syndactyly
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Cataract-hypertrichosis-intellectual disability syndrome
Cerebellar ataxia-ectodermal dysplasia syndrome
Chondroectodermal dysplasia with night blindness
Choroidal atrophy-alopecia syndrome
Circumscribed palmoplantar hypokeratosis
Cleft lip/palate-ectodermal dysplasia syndrome
Conductive deafness-ptosis-skeletal anomalies syndrome
Congenital hypotrichosis with juvenile macular dystrophy
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Dermatoosteolysis, Kirghizian type
Dermatopathia pigmentosa reticularis
Dermo-odonto dysplasia
Dermotrichic syndrome
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
Ectodermal dysplasia 13, hair/tooth type
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Ectodermal dysplasia 15, hypohidrotic/hair type
Ectodermal dysplasia 17 with or without limb malformations
Ectodermal dysplasia 5, hair/nail type
Ectodermal dysplasia Bartalos type
Ectodermal dysplasia alopecia preaxial polydactyly
Ectodermal dysplasia arthrogryposis diabetes mellitus
Ectodermal dysplasia blindness
Ectodermal dysplasia margarita type
Ectodermal dysplasia neurosensory deafness
Ectodermal dysplasia with natal teeth, Turnpenny type
Ectodermal dysplasia, trichoodontoonychial type
Ectodermal dysplasia-blindness syndrome
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Ectodermal dysplasia-sensorineural deafness syndrome
Epidermolysis bullosa simplex due to plakophilin deficiency
Gingival fibromatosis-hypertrichosis syndrome
Hidrotic ectodermal dysplasia, Christianson-Fourie type
Hidrotic ectodermal dysplasia, Halal type
Hypertrichosis cubiti-short stature syndrome
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Incontinentia pigmenti
Jones hersh yusk syndrome
Limb-mammary syndrome
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Oculoosteocutaneous syndrome
Oculotrichodysplasia
Odonto-onycho dysplasia-alopecia syndrome
Odonto-tricho-ungual-digito-palmar syndrome
Odontomicronychial dysplasia
Odontotrichomelic syndrome
Pili torti-onychodysplasia syndrome
Pilodental dysplasia-refractive errors syndrome
Scalp-ear-nipple syndrome
Taurodontia-absent teeth-sparse hair syndrome
Tooth and nail syndrome
Tricho-dento-osseous syndrome
Tricho-oculo-dermo-vertebral syndrome
Tricho-retino-dento-digital syndrome
Trichodental syndrome
Trichodermodysplasia-dental alterations syndrome
Trichodysplasia-amelogenesis imperfecta syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Trichoodontoonychial dysplasia

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