About Flynn-Aird syndrome

What is Flynn-Aird syndrome?

Flynn-Aird syndrome is a rare genetic disorder characterized by a combination of physical and neurological abnormalities. It is caused by a mutation in the gene encoding the protein filamin A, which is involved in the formation of the cytoskeleton. Symptoms of Flynn-Aird syndrome include intellectual disability, seizures, hypotonia, facial dysmorphism, and skeletal abnormalities.

What are the symptoms of Flynn-Aird syndrome?

The symptoms of Flynn-Aird syndrome include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth retardation
-Hearing loss
-Cleft palate
-Craniofacial abnormalities
-Abnormalities of the hands and feet
-Cardiac defects
-Kidney abnormalities
-Gastrointestinal problems
-Neurological problems
-Behavioral problems

What are the causes of Flynn-Aird syndrome?

Flynn-Aird syndrome is a rare genetic disorder caused by a mutation in the gene encoding the protein filamin A (FLNA). This mutation disrupts the normal development of the skeleton, heart, and brain. It is 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 Flynn-Aird syndrome?

The treatments for Flynn-Aird syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and complications associated with the syndrome. This may include physical therapy, occupational therapy, speech therapy, and orthopedic surgery. Other treatments may include medications to help control seizures, hormone replacement therapy, and dietary modifications. In some cases, genetic counseling may be recommended.

What are the risk factors for Flynn-Aird syndrome?

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

Is there a cure/medications for Flynn-Aird syndrome?

At this time, there is no cure for Flynn-Aird 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 strength.