Primary microcephaly (MCPH) is a rare condition where a person is born with a small head size (microcephaly).
People with MCPH usually have an intellectual disability that can range from mild to severe. They may also experience developmental delays, such as late speech and language skills. Motor skills might also take longer to develop. Other symptoms can include being shorter than average and having seizures. Generally, people with MCPH don’t have other major birth defects or health problems. There’s no cure for MCPH, but early intervention and supportive therapies can help with learning and motor skill development.
Microcephaly can be caused by many different genes. This form is caused by pathogenic (disease-causing) variants in the MCPH1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
US Centers for Disease Control and Prevention
Written August 2024
