About Acrocallosal syndrome
What is Acrocallosal syndrome?
Acrocallosal syndrome is a rare genetic disorder that affects the development of the brain and other parts of the body. It is characterized by the presence of extra fingers and toes, a wide space between the eyes, and a wide head. Other features may include intellectual disability, seizures, and vision and hearing problems.
What are the symptoms of Acrocallosal syndrome?
The symptoms of Acrocallosal syndrome vary from person to person, but may include:
-Delayed development
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Abnormal facial features
-Hearing loss
-Abnormalities of the hands and feet
-Abnormalities of the brain and spinal cord
-Abnormalities of the heart and other organs
-Kidney and urinary tract problems
-Gastrointestinal problems
-Behavioral problems
What are the causes of Acrocallosal syndrome?
Acrocallosal syndrome is a rare genetic disorder caused by mutations in the GLI3 gene. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected by the disorder.
What are the treatments for Acrocallosal syndrome?
The treatments for Acrocallosal syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and nutritional support. Surgery may be necessary to correct any physical deformities or to improve the functioning of the digestive system. Medications may be prescribed to help control seizures, manage pain, and reduce inflammation. In some cases, genetic counseling may be recommended.
What are the risk factors for Acrocallosal syndrome?
The exact cause of Acrocallosal syndrome is unknown, but it is believed to be caused by a genetic mutation. Risk factors for Acrocallosal syndrome include a family history of the condition, being of Ashkenazi Jewish descent, and having a parent with a balanced chromosomal translocation.
Is there a cure/medications for Acrocallosal syndrome?
At this time, there is no cure for Acrocallosal Syndrome. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, speech therapy, and medications to help with seizures, muscle spasms, and other symptoms.