Common Issues with Cardiofaciocutaneous Syndrome
Heart Issues
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:
Other Issues
Skin / Hair
Many people with CFC syndrome have skin issues, including dry skin and rough patches of skin (hyperkeratosis). Sometimes people develop small bumps on their arms, legs or face (keratosis pilaris). Some people with CFC may also have brown spots, called café-au-lait spots, or red birthmarks, called hemangiomas. Individuals with CFC syndrome often exhibit distinctive hair characteristics, including sparse, curly, fine, thick, woolly, or brittle hair. In addition, eyelashes and eyebrows may be sparse or entirely absent.
Physical Features
People with CFC syndrome have distinct facial features that can change over time. These include a large head (macrocephaly), high, broad forehead that narrows at the temples, long face, full lips, a short nose, small chin (micrognathia), as well as low set and rotated ears. The eyes are typically widely spaced, with the outer corners slanting downward. People may have drooping upper eyelids. Although those with CFC syndrome share many facial features, they also look like their own family members. Skeletal anomalies in general can occur in some patients. These may include shortened and / or bowed ulna (one of the forearm bones), scoliosis (curvature of the spine), differences in the shape of their chest, flat feet and short stature.
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). These feeding challenges can continue and significantly affect growth, often requiring nutritional support through nasogastric or gastrostomy tube feeding.
Almost everyone with CFC syndrome will have some kind of intellectual disabilities, ranging from mild to severe. Some people also have seizures that start in infancy or childhood.
Ocular / Vision
People with CFC syndrome can have eye problems such as crossed eyes (strabismus), involuntary eye movement (nystagmus), underdevelopment of one or both optic nerves (optic nerve hypoplasia), and blurred or distorted vision.
