Cardiofaciocutaneous syndrome
What are the symptoms?
There are a wide range of features of CFC syndrome including:
- Relatively macrocephaly (large head) with a high forehead;
- Hypertelorism (wide spaced eyes), short nose, low set ears and other facial abnormalities. 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, and hypertrophic cardiomyopathy (see entry, Cardiomyopathies) (abnormal development of the muscle of the heart);
- Short stature;
- Motor and speech delay;
- Learning disability.
Background
| What are the causes? 
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