Microcephaly-capillary Malformation Syndrome – Battling a rare genetic disorder

Microcephaly-capillary Malformation or mic-cap Syndrome (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous,vascular, neurologic, and limb abnormalities. Microcephaly-capillary malformation syndrome is rare genetic disorder. About a dozen people have been diagnosed with the disorder worldwide.

This condition has an autosomal recessive pattern of inheritance, which means both copies of theSTAMBP gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition.