Skin

Acral peeling skin syndrome

Acrodermatitis enteropathica

Alopecia universalis

Anonychia congenita

Arthrogryposis renal dysfuntion and cholestasis

Basal cell nevus syndrome

Basan syndrome

Birt-Hogg-Dubé syndrome

Buschke-Ollendorff syndrome

C1q-deficiency

Chanarin-Dorfman syndrome

CHILD syndrome

CLOVE(S) syndrome/ macrodactyly

Cowden syndrome

Cutaneous malignant melanoma

Cutis laxa (elastolysis), autosomal recessive

Cutis laxa, autosomal dominant

Darier-White

Distal arthrogryposis

Dowling-Degos

Dyskeratosis congenita

Dystrophic epidermolysis bullosa

Ehlers-Danlos syndrome

Epidermolytic ichthyosis

Erythrokeratodermia variabilis

Focal dermal hypoplasia

Focal palmoplantar keratoderma

Glucocorticoid deficiecy

Hailey-Hailey

Hennekam syndrome

Hereditary lymphedema

Hypertrophic osteoarthropathy, primary

Hypotrichosis Marie Unna

Ichthyosis

Ichthyosis prematurity syndrome

Ichthyosis vulgaris/Atopic dermatitis

Ichthyosis-hypotrichosis-sclerosing-cholangitis

Keratitis-ichthyosis-deafness syndrome

Lymphatic anomalies

Lymphedema-distichiasis syndrome

Mal de Meleda

Melanoma-pancreatic cancer syndrome

Milroy-like lymphedema

Monilethrix

Multiple cutaneous and mucosal venous malformations

Neurofibromatosis

Nonne-Milroy lymphedema

Odonto onychodermal dysplasia

Oligodontia and colorectal cancer

Pachyonychia congenita

Palmoplantar keratoderma

Papillon-Lefevre syndrome

Piebaldism

Pityriasis rubra pilaris

Primary hypertrophic osteoarthropathy

Proteus syndroom

Sjogren-Larsson syndrome

Skin disorders (WES)

Sneddon syndrome

Somatic overgrowth and vascular malformations

Sturge-Weber syndrome

Tooth Agenesis

Torg-Winchester syndrome

Vohwinkel syndrome with ichthyosis

Witkop syndrome