The most common heart defect seen in those with CFC syndrome is pulmonary stenosis. This is a narrowing in the valve in the blood vessel that carries blood from the heart to the lungs. Other types of heart defects present at birth include:
Many with CFC syndrome have skin issues, including dry skin and rough patches of skin (hyperkeratosis). Some may also have brown spots, called café-au-lait spots, or red birthmarks, called hemangiomas.
People with CFC syndrome have distinct facial features, such as a long face, full lips and low set ears, which can change over time. Although those with CFC syndrome share many facial features, they also resemble their own family members.
People with CFC syndrome often have fine, curly hair. They can also have curvature of the spine (scoliosis), differences in the shape of their chest, and flat feet.
Learning and Development
Delay in reaching early developmental milestones is common for those with CFC syndrome. Infants often have trouble feeding and may have low muscle tone (hypotonia). Almost everyone with CFC syndrome will have some range of intellectual disabilities, ranging from mild to severe.
People with CFC syndrome can have eye problems such as crossed eyes (strabismus) and involuntary eye movement (nystagmus).