Bloom-Torre-Machacek syndrome

A rare, inherited disorder marked by shorter than average height, a narrow face, a red skin rash that occurs on sun-exposed areas of the body, and an increased risk of cancer. The rash usually occurs on the face, arms, and back of the hands. Small clusters of enlarged blood vessels may appear in the rash and in the eyes. Other signs and symptoms include patches of skin that may be lighter or darker than the skin around them, a small jaw and large ears, a high-pitched voice, fertility problems, learning problems, and other growth and developmental problems. People with this disorder have an increased risk of diabetes, chronic obstructive pulmonary disease, and frequent ear and lung infections. They also have an increased risk of developing cancer at an early age, especially squamous cell skin cancer, leukemia, lymphoma, and gastrointestinal tract cancer. Bloom-Torre-Machacek syndrome is caused by a mutation (change) in the BLM gene that causes cells to have abnormal breaks in the chromosomes. Also called Bloom syndrome.

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