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Cardiofaciocutaneous syndrome

Also known as: CFC syndrome

Background

Cardiofaciocutaneous syndrome (CFC)  is a rare congenital (present at birth) condition which consists of characteristic facial features and learning disability. About 200 cases of CFC syndrome are known worldwide but true numbers will be considerably higher. CFC syndrome affects both sexes and all ethnic groups.

Credits

Last updated March 2014 by Professor R Hennekam, Professor of Pediatrics and Translational Genetics, University of Amsterdam, Amsterdam, The Netherlands.

What are the symptoms?

There are a wide range of features of CFC syndrome, including:

  • true macrocephaly (large head) or relatively large head
  • high forehead, hypertelorism (wide spaced eyes), short nose, low set ears and full lips. These characteristics can resemble Noonan syndrome to a great extent
  • brittle and sparse hair together with skin problems, such as scaly or thickened skin
  • heart defects relating to valves and openings between the left and right chambers (typically pulmonary artery stenosis), and hypertrophic cardiomyopathy (abnormal development of the muscle of the heart; see entry Cardiomyopathies in Children)
  • short stature gradually developing in infancy or childhood
  • motor and speech delay (though some follow a normal development)
  • learning disability
  • feeding problems in the first few years.

What are the causes?

CFC syndrome can be caused by mutations (changes in DNA) of at least four different genes located on chromosome 7, chromosome 12, chromosome 15 and chromosome 19; possibly even more genes are involved.

How is it diagnosed?

Diagnosis of CFC syndrome is made by observation of the known signs and symptoms of the syndrome. Ultrasound imaging of the heart and magnetic resonance imaging (MRI) may be used. The diagnosis is usually confirmed by molecular analysis searching for a change in one of the four genes. However, if no change can be found the diagnosis rests on the characteristic signs and symptoms, and can still be made.

How is it treated?

CFC syndrome cannot be cured and treatment is designed to alleviate the symptoms affecting the individual. Speech therapy, appropriate special education support may be needed to address the learning difficulty experienced by some individuals. Good skin care can help with the dermatological aspect of the condition. Surgery may be required to correct heart defects. Some may require tube feeding or a gastrostomy (an opening through the stomach wall for feeding purposes).

Inheritance patterns and prenatal diagnosis

Inheritance patterns
The inheritance pattern is autosomal dominant. Most frequently a patient is the first one in the family to have the syndrome.

Prenatal diagnosis
This may be possible using molecular techniques (testing DNA) for those families in which an earlier child with CFC syndrome has been born and the mutation in the gene causing the condition has been found.

Is there support?

Information and support in the UK for cardiofaciocutaneous syndrome is provided by the Costello Syndrome Support Group (see entry Costello syndrome).