This section deals with the various clinical, laboratory and social aspects of the diseases in the five major groups of disorders (i.e. ectodermal dysplasias, and disorders of epithelial adhesion, keratinisation, connective tissue and DNA repair). Information on these pages is divided into two sub-sections.

  • As a free user, particularly patients and their relatives, you will see a general description of each of the five major groups of disorders, together with details of European centres offering clinical, diagnostic and research services, ongoing clinical trials, patients' associations and related websites.
  • As a registered user you will get more details: each disease has a dedicated page with more detailed clinical and laboratory descriptions, including key clinical features, diagnostic tests and procedures, tools for laboratory diagnosis. Research services, ongoing clinical trials, patients' associations and related websites are also reported. To become a registered user you need first to perform the registration, which in an automated task. Only after confirmation, signing into the website, you will get automatically access to the restricted informations. 
Disease type/subtype
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
CHILD 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 recessive dystrophic severe generalized
Epidermolysis bullosa recessive dystrophic generalized others
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 generalized others
Epidermolysis bullosa simplex localized
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
Ulnar mammary syndrome
Weyer acrofacial dysostosis
Witkop syndrome
Xeroderma pigmentosum
X-linked recessive ichthyosis