About Heart defect-tongue hamartoma-polysyndactyly syndrome

What is Heart defect-tongue hamartoma-polysyndactyly syndrome?

Heart defect-tongue hamartoma-polysyndactyly syndrome is a rare genetic disorder characterized by the presence of a heart defect, a benign tumor of the tongue, and extra fingers and/or toes. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms may include heart defects, tongue tumors, extra fingers and/or toes, and developmental delays. Treatment may include surgery to correct the heart defect and/or remove the tongue tumor, as well as physical and occupational therapy to help with any developmental delays.

What are the symptoms of Heart defect-tongue hamartoma-polysyndactyly syndrome?

The symptoms of Heart defect-tongue hamartoma-polysyndactyly syndrome include:

• Congenital heart defects, such as ventricular septal defect, atrial septal defect, and patent ductus arteriosus
• Tongue hamartoma, which is a benign tumor of the tongue
• Polysyndactyly, which is an abnormality of the hands and feet characterized by extra digits
• Intellectual disability
• Delayed development
• Abnormal facial features, such as a broad forehead, wide-set eyes, and a small chin
• Abnormalities of the eyes, such as strabismus and cataracts
• Abnormalities of the ears, such as Low-set ears and hearing loss
• Abnormalities of the teeth, such as missing teeth

What are the causes of Heart defect-tongue hamartoma-polysyndactyly syndrome?

Heart defect-tongue hamartoma-polysyndactyly syndrome is a rare genetic disorder caused by a mutation in the GLI3 gene. This gene is responsible for the development of the heart, tongue, and hands. The mutation can be inherited from a parent or can occur spontaneously.

What are the treatments for Heart defect-tongue hamartoma-polysyndactyly syndrome?

The treatments for Heart defect-tongue hamartoma-polysyndactyly syndrome vary depending on the severity of the symptoms. Treatment may include:

• Surgery to correct any heart defects or to remove the hamartoma from the tongue

• Physical therapy to help with any physical limitations caused by the syndrome

• Speech therapy to help with any speech difficulties caused by the hamartoma

• Occupational therapy to help with any fine motor skills or coordination issues

• Genetic counseling to help families understand the condition and its implications

• Psychological counseling to help with any emotional issues related to the syndrome

• Medication to help with any associated symptoms, such as seizures or pain

What are the risk factors for Heart defect-tongue hamartoma-polysyndactyly syndrome?

1. Genetic mutation: The genetic mutation that causes Heart defect-tongue hamartoma-polysyndactyly syndrome 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.

2. Family history: A family history of Heart defect-tongue hamartoma-polysyndactyly syndrome increases the risk of developing the disorder.

3. Gender: Males are more likely to be affected by Heart defect-tongue hamartoma-polysyndactyly syndrome than females.

Is there a cure/medications for Heart defect-tongue hamartoma-polysyndactyly syndrome?

Unfortunately, there is no known cure for Heart defect-tongue hamartoma-polysyndactyly syndrome. Treatment is focused on managing the symptoms and complications associated with the syndrome. Medications may be prescribed to help manage symptoms such as seizures, pain, and other medical issues. Surgery may be recommended to correct physical deformities or to improve function. Physical and occupational therapy may also be recommended to help improve mobility and function.