Microcephaly Hereditary

Hereditary microcephaly (m. hereditaria) is a genetic disease characterized by a small size of the brain and skull as a whole. This condition can be inherited from one or both parents and can occur in varying degrees of severity.

Hereditary microcephaly can be caused by mutations in various genes, including ASPM, CDK5RAP2, CENPJ, MCPH1, MCPH5, and WDR62. These genes are responsible for normal brain development, in particular for processes associated with cell division and neuron migration.

Symptoms of hereditary microcephaly can range from mild to severe. Most people with this condition have significantly less head volume than people without hereditary microcephaly. This can lead to developmental delays, speech disorders, intellectual disabilities and other problems.

The diagnosis of hereditary microcephaly can be made based on a medical examination and genetic tests. Treatment includes supportive care to improve the patient's quality of life and manage symptoms.

Although hereditary microcephaly is a serious condition that can greatly impact the quality of life of sufferers and their families, early detection and careful management of symptoms can improve the prognosis and help patients achieve their greatest potential in life.