Rare Disease Library

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

Aplasia cutis congenita

Aplasia cutis congenita-intestinal lymphangiectasia syndrome

Bronspiegel-Zelnick syndrome

Congenital amyoplasia

Amyoplasia congenita

Congenital bilateral absence of vas deferens

Congenital bilateral agenesis of vas deferens · Congenital bilateral aplasia of vas deferens

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Didymosis aplasticosebacea

Aplasia cutis congenita-nevus sebaceus syndrome

OBSOLETE: Recessive aplasia cutis congenita of limbs

Oculoectodermal syndrome

Toriello Lacassie Droste syndrome · Aplasia cutis congenita-epibulbar dermoids syndrome