About Clark-Baraitser syndrome

What is Clark-Baraitser syndrome?

Clark-Baraitser syndrome is a rare genetic disorder characterized by intellectual disability, seizures, and facial abnormalities. It is caused by a mutation in the SETBP1 gene. Symptoms may include delayed development, intellectual disability, seizures, facial abnormalities, and skeletal abnormalities.

What are the symptoms of Clark-Baraitser syndrome?

The symptoms of Clark-Baraitser syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Facial dysmorphism (abnormal facial features)
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Gastrointestinal problems
-Skeletal abnormalities
-Skin abnormalities
-Behavioral problems

What are the causes of Clark-Baraitser syndrome?

Clark-Baraitser syndrome is a rare genetic disorder caused by mutations in the SMARCA2 gene. These mutations are inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for a person to be affected by the disorder.

What are the treatments for Clark-Baraitser syndrome?

Currently, there is no known cure for Clark-Baraitser 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 manage seizures, muscle spasms, and other symptoms. Surgery may be recommended to correct certain physical deformities or to help improve mobility. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.

What are the risk factors for Clark-Baraitser syndrome?

The primary risk factor for Clark-Baraitser syndrome is having a parent who carries a mutation in the SETBP1 gene. This gene mutation is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one mutated copy of the gene from a parent to be affected by the disorder. Other risk factors include having a family history of the disorder, being of Ashkenazi Jewish descent, and having a parent with a history of mental health issues.

Is there a cure/medications for Clark-Baraitser syndrome?

At this time, there is no cure for Clark-Baraitser Syndrome. However, there are medications and therapies that can help manage the symptoms of the condition. These include medications to help with seizures, physical therapy to help with muscle weakness, and speech therapy to help with communication.