Cardiospondylocarpofacial syndrome is a rare genetic disorder characterized by a combination of heart defects, skeletal abnormalities, and facial features. It is caused by a mutation in the gene encoding the protein filamin C. Symptoms may include congenital heart defects, skeletal abnormalities such as scoliosis, and facial features such as a broad forehead, wide-set eyes, and a short nose. Other features may include intellectual disability, hearing loss, and vision problems. Treatment typically involves surgery to correct the heart defects and physical therapy to address the skeletal abnormalities.

The symptoms of Cardiospondylocarpofacial syndrome vary from person to person, but may include:

• Congenital heart defects
• Abnormalities of the spine, ribs, and/or sternum
• Abnormalities of the face, including cleft lip and/or palate
• Abnormalities of the hands and/or feet
• Intellectual disability
• Abnormalities of the eyes, including strabismus (crossed eyes)
• Abnormalities of the ears, including hearing loss
• Abnormalities of the kidneys
• Abnormalities of the gastrointestinal tract
• Abnormalities of the genitalia
• Abnormalities of the teeth
• Abnormalities of the skin, including moles and/or birthmarks

Cardiospondylocarpofacial syndrome is a rare genetic disorder caused by a mutation in the GATA4 gene. This gene is responsible for the production of a protein that helps regulate the development of the heart, spine, and face. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal dominant pattern.

Unfortunately, there is no known cure for Cardiospondylocarpofacial 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, pain, and other symptoms. Surgery may be recommended to correct any physical deformities or to improve breathing. Genetic counseling may also be recommended for families affected by the condition.

The exact cause of Cardiospondylocarpofacial syndrome is unknown, but there are some risk factors that may increase the likelihood of developing the condition. These include:

• Having a family history of the condition
• Being of a certain ethnic background, such as African American or Hispanic
• Having a genetic mutation that affects the development of the heart, spine, and face
• Having a history of certain medical conditions, such as congenital heart defects, Down syndrome, or Marfan syndrome
• Being exposed to certain environmental toxins, such as lead or mercury

Unfortunately, there is no known cure or medications for Cardiospondylocarpofacial syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and other supportive therapies.