Rare Disease Library

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

AREDYLD syndrome

Acrorenal defect-ectodermal dysplasia-diabetes syndrome

CHILD syndrome

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects · CHILD nevus

Congenital aortic valve dysplasia

Cranioectodermal dysplasia

CED · Sensenbrenner syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

Hidrotic ectodermal dysplasia

Clouston syndrome

Hypohidrotic ectodermal dysplasia

HED

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Margarita island ectodermal dysplasia

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno 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

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome