This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
MPPH syndrome is a disorder characterized by the presence of multiple birth defects and developmental delay. Classic signs and symptoms include polymicrogyria, megalencephaly, seizures, polydactyly, and hydrocephalus. Other features might include characteristic facial features, low muscle tone (hypotonia), and impaired vision. Mutations in at least three different genes have been identified that cause MPPH including PIK3R2, AKT3, and CCND2. Most cases of MPPH syndrome are new (de novo) in families with no prior history. The diagnosis of MPPH syndrome is based on physical examination, imaging studies, and genetic testing. Treatment is based on the signs and symptoms present in each person.
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