Rare Disease Library

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

Beemer-Ertbruggen syndrome

Lethal hydrocephalus-cardiac malformation-dense bones syndrome

Biliary atresia with splenic malformation syndrome

BASM syndrome

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

Capillary malformation-arteriovenous malformation

CM-AVM

Edinburgh malformation syndrome

Typus Edinburgensis

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

Malformation syndrome with hamartosis

Dysmorphologic diseases with phakomatosis

Megalencephalic leukoencephalopathy with subcortical cysts

MLC · Megalencephalic leukodystrophy

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Microcystic lymphatic malformation

Capillary lymphangioma · Capillary lymphatic malformation

Non-syndromic cerebral malformation

Non-syndromic brain malformation

Non-syndromic cloacal malformation

Non-syndromic limb malformation

Orofaciodigital syndrome type 14

Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

Bonnemann-Meinecke syndrome

Rare capillary malformation

Rare developmental defect during embryogenesis

Malformation syndrome

Rare genetic capillary malformation

Rare syndrome with cardiac malformations

Retinal capillary malformation

Retinal cavernous hemangioma

Syndromic esophageal malformation

Systemic capillary leak syndrome

Capillary hyperpermeability syndrome · Capillary leak syndrome