Edinburgh malformation syndrome is a rare genetic disorder characterized by a variety of physical and neurological abnormalities. It is caused by a mutation in the gene that codes for the protein filamin A. Symptoms of the disorder include facial dysmorphism, intellectual disability, seizures, and movement disorders.

The symptoms of Edinburgh malformation syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Abnormal facial features
-Hearing loss
-Vision problems
-Heart defects
-Abnormalities of the hands and feet
-Kidney problems
-Gastrointestinal issues
-Skeletal abnormalities

Edinburgh malformation syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the protein filamin A. This mutation disrupts the normal development of the brain, leading to a range of physical and neurological symptoms. 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 Edinburgh malformation 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 Edinburgh malformation syndrome.

The primary risk factor for Edinburgh malformation syndrome is a family history of the disorder. Other risk factors include a history of consanguinity (marriage between close relatives) and a history of multiple miscarriages.

At this time, there is no cure for Edinburgh malformation 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.