Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome

What is Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome?

This rare disease is a congenital brain condition that presents with multiple birth defects (symptoms present at birth) and developmental delay.

The syndrome is characterized by a very large head (megalocephaly) and brain. This growth is especially marked during the first two years of an affected individual's life.

What gene changes cause Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome?

Mutations in the PIK3R2, AKT3, and CCND2 genes are responsible for causing the syndrome.

The syndrome is inherited in an autosomal dominant pattern with many cases of de novo, or new, mutations.

What are the main symptoms of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome?

The main symptoms of the syndrome are:

Polymicrogyria: abnormal development of the brain before birth. The surface folds of the brain develop too small. This might affect an individual's intellectual ability and or trigger seizures, including epilepsy.
Megalencephaly: larger than normal brain. This is not the same as a large head.
Polydactyl: extra digits on the hand
Hydrocephalus: excessive fluid on the brain

How does someone get tested for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome?

The initial testing for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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