Paula and Bobby
Parents of Lillie
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP)
What is Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP)?
Megalencephaly-Capillary Malformation syndrome is a multiple malformation disorder. Its severity varies between individuals.
First identified in 1997 as a distinct disorder there are just 140 reported cases since then, but there may be an under diagnosis contributing to this figure.
This rare developmental condition mainly involves tissue overgrowth in different parts of the body. A large brain (megalocephaly) is one of the main characteristics of the syndrome.
What gene changes cause Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP)?
Somatic mutations to the gene PIK3CA. It is not believed to be an inheritable condition.
Mosaic inheritance occurs very early in the development of a fetus. Essentially it is an error in cell division. The human body is made up of 46 chromosomes, in 23 pairs. Mosaicism occurs when an individual has cells in their body with more or less chromosomes than the usual 46. This can trigger issues that affect different systems and parts of the body.
What are the main symptoms of Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP)?
The main symptoms of the syndrome include brain overgrowth (megalencephaly) a large head.
Capillary malformations, or skin lesions across the face, trunk and limbs are a major symptom. A prominent forehead, extra fingers and toes, as well as loose skin and joints are all also symptoms of the syndrome. As is body asymmetry.
Other health conditions associated with the syndrome include low muscle tone, seizures and heart defects. Symptoms may vary considerably between individuals.
How does someone get tested for Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP)?
The initial testing for Megalencephaly-Capillary Malformation-Polymicrogyria 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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