Bloom syndrome
People with Bloom syndrome are at increased risk for infections, significant growth delays, sun sensitivities and cancer. Helicase deficient.
Shorter than average. Narrow faces with large ears. High-pitched voices.
Also at higher risk of developing:
Chronic obstructive pulmonary disease.
Recurrent infections.
Insulin resistance and diabetes.
Rash when exposed to sunlight.
May have an increased risk of developing cancers including:
Wilms tumor. Digestive system cancers.
Leukemia. Lymphoma. Osteosarcoma.
Skin cancer (particularly squamous cell cancer).
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