Rare Disease Library

Rapp-Hodgkin syndrome

Ectodermal dysplasia syndrome, Rapp-Hodgkin type · Ectodermal dysplasia, Rapp-Hodgkin type

CHIME syndrome

Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency

Cranioectodermal dysplasia

CED · Sensenbrenner syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Ectodermal dysplasia with natal teeth, Turnpenny type

Ectodermal dysplasia-blindness syndrome

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

Ectodermal dysplasia, trichoodontoonychial type

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Focal facial dermal dysplasia type II

FFDD type II · FFDD2

Focal facial dermal dysplasia type III

FFDD type III · FFDD3

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

Hidrotic ectodermal dysplasia

Clouston syndrome

Hidrotic ectodermal dysplasia, Christianson-Fourie type

Christianson-Fourie syndrome

Hidrotic ectodermal dysplasia, Halal type

Halal-Setton-Wang syndrome · Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

Hypohidrotic ectodermal dysplasia

HED

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies

RHOA-related mosaic ectodermal dysplasia

Margarita island ectodermal dysplasia

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Ectodermal dysplasia-short stature syndrome · Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

Pilodental dysplasia-refractive errors syndrome

Euhidrotic ectodermal dysplasia · Kopysc-Barczyk-Krol syndrome

Pure hair and nail ectodermal dysplasia

HNED · Hair-nail ectodermal dysplasia

Schöpf-Schulz-Passarge syndrome

Eccrine tumors-ectodermal dysplasia · Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome

X-linked hypohidrotic ectodermal dysplasia

Christ-Siemens-Touraine syndrome · XHED