| Symbol
| MCAP
|
| Location
| 3q26.32
|
| Name
|
megalencephaly-capillary malformation-polymicrogyria syndrome |
| Other name(s)
|
macrocephaly-capillary malformation |
| Corresponding gene
|
PIK3CA
|
| Other symbol(s)
| MCM
|
| Main clinical features
|
characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria |
| Genetic determination
| not applicable |
| Related entries
| . distinct disorder, megalencephaly-cutis marmorata telangiectatica congenita (MCMTC), with the features of cutis marmorata, nevus flammeus, cavernous hemangiomas, asymmetric growth pattern, central nervous system malformations, and neurologic abnormalities
|
| Function/system disorder
| connective tissue |
|
| osteo-articular |
| Type
| disease
|