Mulvihill Smith Syndrome is a rare genetic disorder characterized by a combination of physical and developmental abnormalities. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms of the disorder include intellectual disability, seizures, facial dysmorphism, skeletal abnormalities, and cardiac defects.

The symptoms of Mulvihill Smith Syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Abnormalities of the hands and feet
-Cleft lip and/or palate
-Abnormalities of the head and face
-Abnormalities of the spine
-Abnormalities of the genitalia
-Abnormalities of the urinary tract

Mulvihill Smith Syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the protein filamin A. This mutation results in a wide range of physical and neurological symptoms, including intellectual disability, seizures, and movement disorders. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal recessive pattern.

Currently, there is no known cure for Mulvihill Smith Syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to help with muscle spasms, seizures, and other symptoms. Surgery may be recommended to correct any physical deformities or to help improve mobility. Additionally, genetic counseling may be recommended for families affected by Mulvihill Smith Syndrome.

The exact cause of Mulvihill Smith Syndrome is unknown, but some risk factors have been identified. These include:

• Family history of the disorder
• Genetic mutations
• Exposure to certain environmental toxins
• Exposure to certain medications
• Exposure to certain infections

At this time, there is no known cure for Mulvihill Smith Syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage seizures, muscle spasms, and other symptoms. Physical and occupational therapy may also be recommended to help improve mobility and function.