Rare Disease Library

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

Beemer-Ertbruggen syndrome

Lethal hydrocephalus-cardiac malformation-dense bones syndrome

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

Capillary malformation-arteriovenous malformation

CM-AVM

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Braddock-Jones-Superneau syndrome

Edinburgh malformation syndrome

Typus Edinburgensis

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Familial scaphocephaly syndrome, McGillivray type

Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

Macrocephaly-developmental delay syndrome

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

Malformation syndrome with hamartosis

Dysmorphologic diseases with phakomatosis

Malformation syndrome with short stature

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

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

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

Non-syndromic cerebral malformation

Non-syndromic brain malformation

Non-syndromic cloacal malformation

Non-syndromic esophageal malformation

Non-syndromic limb malformation

Orofaciodigital syndrome type 14

Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14

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

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Syndromic esophageal malformation

Syndromic intestinal malformation

Systemic capillary leak syndrome

Capillary hyperpermeability syndrome · Capillary leak syndrome