top of page
Bloom Syndrome
Bloom syndrome - Patients have a predisposition to develop Type 2 diabetes later in life (approximately 15% of patients). Other clinical features include short stature,
bird-like facies (sloping forehead, receding chin/micrognathia and long nose), hypogammaglobulinemia, erythematous facial rash on sun-exposed areas (resembling an SLE butterfly rash), skin hyperpigmentation or hypopigmentation, and increased risk of developing malignancy (approximately 50% by age 25).
bottom of page