About Floating-Harbor syndrome

What is Floating-Harbor syndrome?

Floating-Harbor syndrome is a rare genetic disorder that affects the development of the brain and other parts of the body. It is characterized by delayed development, intellectual disability, and physical abnormalities such as short stature, joint contractures, and facial features. Other features may include seizures, hearing loss, and vision problems.

What are the symptoms of Floating-Harbor syndrome?

The most common symptoms of Floating-Harbor syndrome include delayed development, intellectual disability, speech and language delays, behavioral problems, and physical abnormalities. Other symptoms may include seizures, vision and hearing problems, and skeletal abnormalities.

What are the causes of Floating-Harbor syndrome?

Floating-Harbor syndrome is a rare genetic disorder caused by a mutation in the SRCAP gene. This gene is responsible for the production of a protein called SNF2-related CREBBP activator protein (SRCAP). This protein is involved in the regulation of chromatin remodeling, which is the process of changing the structure of DNA in order to regulate gene expression. Mutations in the SRCAP gene can lead to a disruption in this process, resulting in the symptoms of Floating-Harbor syndrome.

What are the treatments for Floating-Harbor syndrome?

The treatments for Floating-Harbor syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, and medications to help with sleep, anxiety, and other issues. In some cases, surgery may be recommended to correct physical deformities or to improve mobility. Additionally, genetic counseling may be recommended to help families understand the condition and plan for the future.

What are the risk factors for Floating-Harbor syndrome?

The exact cause of Floating-Harbor syndrome is unknown, but it is believed to be caused by a genetic mutation. Risk factors for Floating-Harbor syndrome include having a family history of the disorder, being of Ashkenazi Jewish descent, and being a male.

Is there a cure/medications for Floating-Harbor syndrome?

At this time, there is no known cure for Floating-Harbor syndrome. However, there are medications that can help manage the symptoms of the disorder. These medications can include antipsychotics, anticonvulsants, and antidepressants. Additionally, physical and occupational therapy can help improve motor skills and coordination.