Rare Disease Library

Beemer-Ertbruggen syndrome

Lethal hydrocephalus-cardiac malformation-dense bones syndrome

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Braddock-Jones-Superneau syndrome

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Microcephaly-cardiac defect-lung malsegmentation syndrome

Ellis-Yale-Winter syndrome

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

Rare developmental defect during embryogenesis

Malformation syndrome

Rare syndrome with cardiac malformations