Rare Disease Library

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Achalasia-microcephaly syndrome

Beemer-Ertbruggen syndrome

Lethal hydrocephalus-cardiac malformation-dense bones syndrome

Capillary malformation-arteriovenous malformation

CM-AVM

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

Hereditary neurocutaneous malformation

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

Microcephaly-cardiac defect-lung malsegmentation syndrome

Ellis-Yale-Winter syndrome

Microcephaly-cardiomyopathy syndrome

Winship-Viljoen-Leary syndrome

Microcystic lymphatic malformation

Capillary lymphangioma · Capillary lymphatic malformation

Orofaciodigital syndrome type 14

Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

Rare capillary malformation

Rare developmental defect during embryogenesis

Malformation syndrome

Retinal capillary malformation

Retinal cavernous hemangioma