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Megalencephaly-capillary malformation (MCAP) syndrome

Conditions

Megalencephaly-capillary malformation (MCAP) syndrome is characterized by overgrowth of all or part of the head and brain as well as overgrowth of other body parts as is seen in fibroadipose hyperplasia (FH). The overgrowth of the brain causes problems with brain function which may lead to seizures, low muscle tone, developmental delays and intellectual disabilities. Involvement of other body parts may also cause health and medical issues as described for fibroadipose hyperplasia (FH), above. These findings may be seen on prenatal ultrasound in some cases whereas in other cases it is diagnosed at birth or in childhood.

Related topics

PIK3CA-related segmented overgrowth