Cardiofaciocutaneous syndrome

What is Cardiofaciocutaneous syndrome?

Cardiofaciocutaneous syndrome is a rare genetic disorder that presents with very distinct facial characteristics and a wide range of health conditions that affect the skin and hair of individuals affected. Heart defects are also common with the syndrome.

It belongs to the RASopathies group of conditions distinguished by their genetic causes and features. Other syndromes within this group include Costello and Noonan syndrome.

What gene changes cause Cardiofaciocutaneous syndrome?

The syndrome occurs due to mutations of the following genes: BRAF, MAP2K1 (MEK1), MAP2K2 (MEK2), KRAS. The mutations are believed to be mainly spontaneous and not inherited.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Cardiofaciocutaneous syndrome?

The main symptoms of the syndrome are global developmental delay and intellectual disability.

Feeding problems are also common which in turn triggers a failure to thrive.

Congenital heart defects are another common symptom of the syndrome, specific heart defects associated with the syndrome may include pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy.

Issues with the eyes, vision and sight are also common.

Physical features of the syndrome include a prominent forehead, an abnormal narrowing of both sides of the forehead, a short nose and little or no eyebrows and eyelashes.

Individuals with the syndrome are also characterized by their sparse, brittle and curly hair. Many individuals suffer from skin conditions ranging from dry skin to the more severe hyperkeratosis.

How does someone get tested for Cardiofaciocutaneous syndrome?

The initial testing for Cardiofaciocutaneous syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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