Shane has been diagnosed with a RASopathies called CFC Syndrome

At the age of 4, Shane was diagnosed with a rare genetic disorder, a RASopathies, CFC or Cardio-Facio-Cutaneous.

  • Approximately 50% of the people affected by rare diseases are children
  • 30% of children with rare disease will not live to see their 5th birthday
  • Rare diseases are responsible for 35% of deaths in the first year of life

CFC Syndrome

1:810,000 (Aoki et. al.); 1:150,000 (unpublished, UK)
Mutations: BRAF, KRAS, MAP2K1 (MEK1), MAP2K2 (MEK2)

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.

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 (ichythyotic), 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?

CFC syndrome is caused by a mutation (change) in one of our genes. Genes are the instructions which
tell our body how to develop and function properly. If there is a change in one of our genes, it can
affect how the gene is supposed to function and how the body develops. Recently, three different
genes have been found to be associated with CFC syndrome (BRAF, MEK1, MEK2). Most
individuals with CFC syndrome (87%) have a mutation in the BRAF gene and 13% have a mutation in
MEK1/2. Molecular genetic (DNA) testing for mutations in all of these genes is clinically available.

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.

Here is a great link that explains more about RASopathies!