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).  

 

Bloom Syndrome