Rare Disease Library

Oligodontia-cancer predisposition syndrome

Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

Autosomal dominant Alport syndrome

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Segawa syndrome · DYT5a

Autosomal dominant hypohidrotic ectodermal dysplasia

AD-HED

Autosomal dominant Kenny-Caffey syndrome

Autosomal dominant omodysplasia

Autosomal dominant Robinow syndrome

Autosomal dominant spondylocostal dysostosis

Autosomal dominant spondylocostal dysplasia

Cerebellar ataxia-ectodermal dysplasia syndrome

Cleft lip/palate-ectodermal dysplasia syndrome

CLPED1 · Cleft lip/palate-syndactyly-pili torti syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Ectodermal dysplasia-blindness syndrome

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

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

OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome