Catalog
Ectodermal dysplasia syndromes
Link to WHO Definition
Ectodermal dysplasia syndromes – http://id.who.int/icd/entity/1156567558
Ectodermal dysplasias (EDs) are a heterogeneous group of syndromes characterised by developmental dystrophies of ectodermal structures, such as hypohidrosis, hypotrichosis, onychodysplasia and hypodontia or anodontia. More than 160 clinically and genetically distinct hereditary ectodermal dysplasia syndromes have been catalogued.
Parents
Children
- Ankyloblepharon - ectodermal defects - cleft lip or palate
- IBIDS syndrome
- Oligodontia - cancer predisposition syndrome
- Deafness – onychodystrophy
- Ectrodactyly - ectodermal dysplasia without clefting
- Trichorhinophalangeal syndrome type 1 and 3
- Hypertrichosis cubiti - short stature
- Pili torti - onychodysplasia
- Keratitis – ichthyosis – deafness syndrome
- Book syndrome
- Focal facial dermal dysplasia
- Oculotrichodysplasia
- Tricho-oculo-dermo-vertebral syndrome
- Ectrodactyly - ectodermal dysplasia - cleft lip or palate
- Ectodermal dysplasia - syndactyly syndrome
- Ectodermal dysplasia - absent dermatoglyphs
- Ectodermal dysplasia - ectrodactyly - macular dystrophy
- Trichodermodysplasia - dental alterations
- Odonto-onycho-dermal dysplasia
- Deafness – enamel hypoplasia – nail defects
- Onycho-tricho-dysplasia – neutropaenia syndrome
- Absence of fingerprints-congenital milia syndrome
- Tricho-dento-osseous syndrome
- Gingival fibromatosis - hypertrichosis
- Hypoparathyroidism - deafness - renal disease
- Marshall syndrome
- LD25.00 Oral-facial-digital syndrome
- Dahlberg-Borer-Newcomer syndrome
- Trichomegaly - retina pigmentary degeneration - dwarfism
- Johanson-Blizzard syndrome
- Oculo-dento-digital dysplasia
- ADULT syndrome
- Rapp-Hodgkin syndrome
- Choroidal atrophy - alopecia
- Johnson neuroectodermal syndrome
- Trichomegaly - cataract - hereditary spherocytosis
- Curly hair – ankyloblepharon – nail dysplasia syndrome
- Dyskeratosis congenita
- Alopecia - contractures - dwarfism - intellectual deficit
- Schinzel-Giedion syndrome
- LD27.00 Incontinentia pigmenti
- Cranioectodermal dysplasia
- Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit
- Familial isolated trichomegaly
- Papillon-Lefèvre syndrome
- Hypomelanosis of Ito
- Hidrotic ectodermal dysplasia, Halal type
- Amelo-onycho-hypohidrotic syndrome
- Conductive deafness - ptosis - skeletal anomalies
- Ectodermal dysplasia – skin fragility syndrome
- Sabinas brittle hair syndrome
- Cote-Katsantoni syndrome
- Autosomal recessive palmoplantar keratoderma and congenital alopecia
- Autosomal dominant palmoplantar keratoderma and congenital alopecia
- Stern-Lubinsky-Durrie syndrome
- Anonychia or onychodystrophy – hypoplasia or absence of distal phalanges
- LD27.03 Hidrotic ectodermal dysplasia, Clouston type
- Solitary median maxillary central incisor syndrome
- Facial ectodermal dysplasia
- Tricho-odonto-onycho-dermal syndrome
- Ackerman syndrome
- Hallermann-Streiff-François syndrome
- Limb-mammary syndrome
- Dermo-odontodysplasia
- Toriello-Lacassie-Droste syndrome
- Hypertrichosis lanuginosa congenita
- Odontotrichomelic syndrome
- Tricho-retino-dento-digital syndrome
- AREDYLD syndrome
- Dermatoosteolysis, Kirghizian type
- Cataract - alopecia - sclerodactyly
- BIDS syndrome
- Taurodontia - absent teeth - sparse hair
- Cerebellar ataxia - ectodermal dysplasia
- Oculo-osteo-cutaneous syndrome
- Tricho-odonto-onychial dysplasia with bone deficiency in fronto-parietal region
- Odonto-onycho dysplasia - alopecia
- OL-EDA-ID syndrome
- Chondroectodermal dysplasia
- LD24.80 Langer-Giedion syndrome
- Autosomal dominant hypodontia with nail dysplasia
- Naegeli-Franceschetti-Jadassohn syndrome
- Odonto-tricho-ungual-digito-palmar syndrome
- Ectodermal dysplasia - arthrogryposis - diabetes mellitus
- Juvenile macular degeneration - hypotrichosis
- Contractures - ectodermal dysplasia - cleft lip or palate
- Anonychia with bizarre flexural pigmentation
- Schöpf-Schulz-Passarge syndrome
- Ectodermal dysplasia - intellectual deficit - central nervous system malformation
- Cartilage-hair hypoplasia
- Lacrimo-auriculo-dento-digital syndrome
- Pilodental dysplasia - refractive errors
- Cardio-facio-cutaneous syndrome
- Ectodermal dysplasia with natal teeth, Turnpenny type
- Ectodermal dysplasia, Berlin type
- X-linked dominant congenital generalised hypertrichosis
- Ectodermal dysplasia - cutaneous syndactyly syndrome
- Rothmund-Thomson syndrome
- Hidrotic ectodermal dysplasia, Christianson-Fourie type
- LD27.02 Hypohidrotic ectodermal dysplasia
- Congenital generalised hypertrichosis
- Focal dermal hypoplasia
- Ectodermal dysplasia, pure hair-nail type
- Tricho-odonto-onychial ectodermal dysplasia
- Ectodermal dysplasia - blindness
- Cataract – hypertrichosis – intellectual deficit
- Zlotogora-Ogur syndrome
- Coffin-Siris syndrome
- Blepharocheilodontic syndrome
- Dubowitz syndrome
- LD27.01 Cronkhite-Canada syndrome
- Amelo-cerebro-hypohidrotic syndrome
- Woolly hair – hypotrichosis – everted lower lip – outstanding ears
- Scalp-ear-nipple syndrome
- Odonto-onycho-hypohidrotic dysplasia - midline scalp defects
- Ectodermal dysplasia - acanthosis nigricans
- GAPO syndrome
- Zunich-Kaye syndrome
- Tricho-odonto-onychodysplasia - dominant syndactyly
- Trichodysplasia - amelogenesis imperfecta
- Ectodermal dysplasia - sensorineural deafness
- Trichodental syndrome
- Beare-Stevenson cutis gyrata syndrome
- Xeroderma - talipes - enamel defects
- Sparse hair - short stature - skin anomalies
- Gorlin-Chaudhry-Moss syndrome