Rare Disease Library

Pure autonomic failure

Bradbury-Eggleston syndrome · Idiopathic orthostatic hypotension

Braddock syndrome

Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Hidrotic ectodermal dysplasia

Clouston syndrome

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Orofaciodigital syndrome type 5

Oral-facial-digital syndrome type 5 · Orofaciodigital syndrome, Thurston type

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia