Bloom syndrome
What are the symptoms?
The features found in Bloom syndrome include:
- Narrow face and redness of the skin of the face,
mainly the bridge of the nose, the adjoining upper cheek areas, the
lower eyelids and the lower lip. The skin problems are aggravated by
sun exposure and vary in severity;
- Small size at birth and thereafter short stature. Typically, affected people only reach about 1.5m (5 feet);
- Respiratory tract and ear infections, some of which can be life-threatening;
- Normal intellect but a few cases of learning disability have been reported;
- Diabetes in about ten per cent of affected people;
- Infertility in nearly all men;
- Reduced fertility in women;
- Increased risk of malignancy. About twenty-eight per cent of individuals are thought to develop different kinds of cancer.
Background
| What are the causes? 
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