Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)

Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)

Arthrogryposis and ectodermal dysplasia

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)

Basan syndrome

Bullous congenital ichthyosiform erythroderma

Cartilage-hair hypoplasia syndrome

Chanarin-Dorfman syndrome

Cleft lip/palate-ectodermal dysplasia syndrome

Clouston syndrome

Cockayne syndrome

Congenital hypotrichosis with juvenile macular dystrophy

Congenital insensitivity to pain with anhidrosis

Corneodermatoosseous syndrome

Cranioectodermal syndrome

Cronkhite-Canada syndrome

Curly hair-ankyloblepharon-nail dysplasia (CHANDS)

Cutis laxa, hereditary

Darier disease

Dyskeratosis congenita

Ectodermal dysplasia, Margarita Island type

Ectodermal dysplasia, pure hair and nail type

Ectodermal dysplasia, skin fragility syndrome (McGrath syndrome)

Ectodermal dysplasia, with ectrodactyly and macular dystrophy

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome)

Ehlers-Danlos syndrome, arthrochalasis type

Ehlers-Danlos syndrome, classic type

Ehlers-Danlos syndrome, dermatosparaxis type

Ehlers-Danlos syndrome, hypermobility type

Ehlers-Danlos syndrome, kyphoscoliotic type

Ehlers-Danlos syndrome, unclassified variants

Ehlers-Danlos syndrome, vascular type

Ellis-van Creveld syndrome

Epidermolysis bullosa dystrophic, dominant

Epidermolysis bullosa dystrophic, Hallopeau-Siemens

Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens

Epidermolysis bullosa dystrophic, pretibialis & pruriginosa

Epidermolysis bullosa junctional, Herlitz

Epidermolysis bullosa junctional, non-Herlitz

Epidermolysis bullosa junctional, with pyloric atresia

Epidermolysis bullosa simplex, Dowling-Meara

Epidermolysis bullosa simplex, Koebner

Epidermolysis bullosa simplex, Weber-Cockayne

Epidermolysis bullosa simplex, with mottled pigmentation

Epidermolysis bullosa simplex, with muscular dystrophy

Erythrokeratodermia variabilis

Focal dermal hypoplasia syndrome

Growth retardation-alopecia-pseudoanodontia-optic atrophy (GAPO syndrome)

Hailey-Hailey disease

Hallerman-Streiff syndrome

Harlequin type ichthyosis congenita

Heimler syndrome

Hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia with hypothyroidism and agenesis of the corpus callosum

Hypohidrotic ectodermal dysplasia, with hypothyroidism and ciliary dyskinesia

Hypohidrotic ectodermal dysplasia, with immune deficiency

Hypohidrotic ectodermal dysplasia, with immune deficiency, osteopetrosis and lymphoedema

Ichthyosis of Siemens

Incontinentia pigmenti

Johanson-Blizzard syndrome

Johnson neuroectodermal syndrome

Keratitis-ichthyosis-deafness syndrome

Kindler syndrome

Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma

Limb-mammary syndrome

Lipoid proteinosis

Marshall syndrome

Mucoepithelial dysplasia, hereditary

Mutilating Vohwinkel palmo-plantar keratoderma without deafness

Mutilating Vohwinkel palmo-plantar keratoderma with deafness

Naegeli syndrome

Netherton syndrome

Oculodentodigital displasia (ODDD)

Odontoonychodermal dysplasia

Odontotrichomelic syndrome

Onychotrichodysplasia and neutropenia

Orofaciodigital syndrome, type I (OFDS1)

Pachyonychia congenita type 1

Pachyonychia congenita type 2

Pseudoxanthoma Elasticum

Rapp-Hodgkin syndrome

Refsum disease

Rothmund-Thomson syndrome

Sabinas brittle hair and mental deficiency syndrome

Scalp-ear-nipple syndrome

Schopf-Schulz-Passarge syndrome

Sjögren Larsson syndrome

Taurodontia, absent teeth and sparse hair

Trichodental dysplasia

Trichodentoosseous syndrome

Trichothiodystrophy

Ulnar mammary syndrome

Weyer acrofacial dysostosis

Witkop syndrome

Xeroderma pigmentosum

X-linked recessive ichthyosis