About Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

What is Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome (MPPH) is a rare genetic disorder characterized by an abnormally large head (megalencephaly), abnormal brain development (polymicrogyria), extra fingers or toes (postaxial polydactyly), and an accumulation of fluid in the brain (hydrocephalus). It is caused by a mutation in the ARFGEF2 gene. Symptoms may include developmental delays, seizures, and intellectual disability. Treatment typically involves medications to control seizures, physical and occupational therapy, and surgery to reduce the size of the head and to treat hydrocephalus.

What are the symptoms of Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?

The symptoms of Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome can vary from person to person, but may include:

- Seizures
- Developmental delay
- Intellectual disability
- Poor coordination
- Abnormal movements
- Abnormal facial features
- Abnormal head size (megalencephaly)
- Abnormal brain structure (polymicrogyria)
- Abnormal hand and foot structure (postaxial polydactyly)
- Hydrocephalus (excess fluid in the brain)
- Vision and hearing problems
- Feeding difficulties
- Respiratory problems
- Heart defects
- Kidney problems

What are the causes of Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is a rare genetic disorder caused by a mutation in the ARFGEF2 gene. This gene is responsible for the production of a protein that helps regulate cell growth and development. Mutations in this gene can lead to abnormal brain development, resulting in the symptoms associated with this syndrome.

What are the treatments for Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?

Treatment for Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is typically supportive and symptomatic. This may include physical therapy, occupational therapy, speech therapy, and medications to help manage seizures. Surgery may be necessary to treat hydrocephalus, and orthopedic surgery may be necessary to correct any skeletal abnormalities. Genetic counseling may also be recommended.

What are the risk factors for Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?

The exact cause of Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is unknown. However, some risk factors have been identified, including:

• Genetic mutations: Mutations in the genes GPR56, PIK3R2, and PIK3CA have been linked to this syndrome.

• Family history: If a family member has this syndrome, there is an increased risk of developing it.

• Environmental factors: Exposure to certain environmental toxins or radiation may increase the risk of developing this syndrome.

• Maternal age: Women over the age of 35 are more likely to have a child with this syndrome.

Is there a cure/medications for Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?

At this time, there is no known cure for Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome. Treatment focuses on managing the symptoms and complications associated with the syndrome. Medications may be prescribed to help control seizures, and physical and occupational therapy may be recommended to help improve motor skills. Surgery may be necessary to treat hydrocephalus.