Symptoms and causes

What are the features of the condition?

Facial features: Large forehead, relative macrocephaly (large head), narrowing at the sides of the forehead, down-slanting eyes, ptosis (droopy eyelid), depressed nasal bridge, rotated ears.

  • Heart: Pulmonic stenosis (narrowing of the artery going from the heart to the lungs), atrial septal defects (holes in the upper chambers of the heart), ventricular septal defects (holes in the lower chambers of the heart), hypertrophic cardiomyopathy (enlarged heart muscle)

  • Skin and hair: Dry, thickened (hyperkeratotic), or scaly (ichthyotic), eczema (extreme dryness of skin and itchiness); sparse, curly, wooly or brittle hair; eyelashes and eyebrows may be absent or sparse.

  • Eye findings: wide-spaced eyes (hypertelorism), strabismus (eyes turning in/out), nystagmus (jittery eyes), near-sightedness, small optic (eye) nerves. These may result in decreased vision and acuity.

  • Feeding/ Gastrointestinal (GI) problems: Difficulty feeding, failure to thrive, reflux, vomiting, oral aversion; intestine malrotation, hernia, and constipation.

  • Growth: May have normal birth weight and length, but they may drop to below the 5th percentile in infancy. Head remains on the growth curve (relative macrocephaly). Some may have growth hormone deficiency.

  • Neurologic findings: Hypotonia (low muscle tone), seizures, abnormal EEG, hydrocephalus (fluid on the brain), other brain changes; cognitive impairment (ranging from mild to severe).

What causes cfc syndrome?

CFC syndrome is a rare genetic condition that typically affects the heart (cardio), facial features (facio) and skin (cutaneous). It is seen with equal frequency in males and females and across all ethnic groups. Children with CFC syndrome may have certain features that suggest the diagnosis, such as relatively large head size, down-slanting eyes, sparse eyebrows, curly hair, areas of thickened or scaly skin, and short stature.  Most will also have a heart defect. While there is a wide spectrum of severity in CFC syndrome, most individuals will have some degree of learning difficulty and developmental delay.  There are several characteristic facial features that are evident in CFC syndrome that may overlap with other conditions, particularly Noonan Syndrome (NS) and Costello Syndrome (CS). Therefore, accurate diagnosis is essential for proper medical management.

Is there a cure?

Currently, there is no cure to treat all of the symptoms of CFC syndrome. However, with proper management and early intervention, much can be done to improve the health of children with CFC syndrome. At present, treatment ultimately depends on the unique characteristics of each individual. These can include heart surgery to repair a structural defect, medications and lotions for the skin problems, or eye surgeries or corrective lenses to improve vision.

Written by: Pilar L. Magoulas, MS, CGC, Baylor College of Medicine
Reviewed and modified by Katherine A. Rauen, PhD, MD, UC Davis MIND Institute, 2015

This information is not intended to serve as medical advice and should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If you suspect your child or loved one may have CFC Syndrome, you should consult your health care provider.