Version June 2024
| OMIM number | Syndrome name(s) | Gene | Distinguishing features |
| EDA/NF-kappa-B pathway | |||
| 305100 | Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) | Ectodysplasin A; EDA (300451) | Hypohidrosis, hypotrichosis, hypodontia, smooth dry skin, craniofacial dysmorphology, periorbital pigmentation |
| 129490 | Hypohidrotic ectodermal dysplasia 10A | Ectodysplasin A receptor; EDAR (604095) or EDARADD (606603) | Hypohidrosis, hypotrichosis, hypodontia, smooth dry skin, craniofacial dysmorphology, periorbital pigmentation |
| 224900 | Hypohidrotic ectodermal dysplasia 10B | Ectodysplasin A receptor; EDAR (604095) or EDARADD (606603) | Hypohidrosis, hypotrichosis, hypodontia, smooth dry skin, craniofacial dysmorphology, periorbital pigmentation |
| 308300 | Incontinentia pigmenti | IKBKG (300248) | Short stature, cataract, microphthalmia, hypodontia, extra ribs, breast aplasia, staged skin involvement, nail dystrophy, atrophic hair |
| 300291 | Ectodermal dysplasia and immunodeficiency 1 | IKBKG (300248) | Hypohidrosis, hypotrichosis, morbidity/mortality secondary to immunodeficiency |
| WNT pathway | |||
| 305600 | Focal dermal hypoplasia, Goltz syndrome | PORCN (300651) | Short stature, facial asymmetry, narrow auditory canals, hearing loss, oral papillomas, hypodontia, syndactyly, sparse hair, skin atrophy |
| 257980 | Odonto-onycho-dermal dysplasia | WNT10A (606268) | Sparse eyebrows, severe hypodontia, smooth tongue, hyperhidrosis, hyperkeratosis, dystrophic nails, sparse eyebrows, thin hair |
| 224750 | Schopf-Schulz-Passarge syndrome | WNT10A (606268) | Hypodontia, eyelid cysts, keratoderma, hypoplastic nails, hypotrichosis |
| TP63 pathway | |||
| 103285 | Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) | TP63 (603273) | Lacrimal obstruction, hypodontia, dysplastic teeth, breast hypoplasia, ectrodactyly, thin skin, dysplastic nails |
| 106260 | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome; Hay-Wells syndrome) | TP63 (603273) | Scalp erosions, conductive hearing loss, maxillary hypoplasia, lacrimal duct atresia, hypotrichosis, ankyloblepharon, cleft lip, hypodontia |
| 129400 | Rapp-Hodgkin syndrome | TP63 (603273) | Short stature, maxillary hypoplasia, hearing loss, cleft lip/palate, hypodontia, syndactyly, thin skin, hypohidrosis |
| 604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | TP63 (603273) | Blepharophimosis, cleft lip/palate, microdontia, hypodontia, syndactyly, hypokeratosis, dystrophic nails, hypotrichosis |
| 603543 | Limb-mammary syndrome | TP63 (603273) | Lacrimal duct atresia, hypodontia cleft palate, hypoplastic breasts, syndactyly, ectrodactyly, nail dysplasia |
| Structure group | |||
| 225280 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | CDH3 Cadherin 3 (114021) | Sparse scalp hair, eyebrows, and eyelashes; hypodontia; small teeth; ectrodactyly; syndactyly; camptodactyly; normal sweating |
| 602032 | Ectodermal dysplasia 4, hair/nail type | KRT85 Keratin 85 (602767) | Nail dystrophy, onycholysis, absent eyebrows/eyelashes, alopecia, normal skin/teeth |
| 604536 | Ectodermal dysplasia/skin fragility syndrome | PKP1 Plakophilin 1 (601975) | Nail dystrophy and thickening, hypotrichosis, sweat glands, skin fragility |
| 158000 | Monilethrix | Keratins 81, 86, 83; KRT81, KRT86, KRT83 (602153, 601928, 602765) | Follicular keratosis, nail dystrophy, hypotrichosis, brittle hair |
| 225060 | Cleft lip/palate-ectodermal dysplasia | Nectin 1 NECTIN1 (600644) | Malar hypoplasia, hypotrichosis, cleft lip/palate, hypodontia, syndactyly, onychodysplasia |
| Other/unknown | |||
| 601701 | Arthrogryposis and ectodermal dysplasia | Unknown | Short statue, microcephaly, cataract, cleft lip/palate, oligodontia, enamel defects, arthrogryposis, hypohidrosis, onychodysplasia |
| 125640 | Dermoodontodysplasia | Unknown | Trichodysplasia, onychodysplasia, dental anomalies |
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