Bloom Syndrome

Bloom Syndrome (Bloom-Torre-Mackacek Syndrome; Levi-Type Dwarfism;
Telangiectasis; Facial Dwarfism)

General: Autosomal recessive inheritance; male preponderance; usually low birth weight following full-term gestation; full-term, abnormally small children.

Ocular: Erythema of the lower eyelids.

Clinical: Facial rash; erythema of any part of the body; hypersensitivity to light; failure to grow; microcephaly; dolichocephaly; abnormalities of ears, extremities, digits, and nose; facial rash from sensitivity to sunlight; predisposition to neoplasia (especially leukemia) and diabetes mellitus; multiple chromosomal breaks have been observed in deoxyribonucleic acid (DNA) from these patients.

Bloom, D. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Am J Dis Child 1954; 88: 754--758.

German J. Bloom's syndrome: incidence, age of onset, and types of leukemia in the Bloom's syndrome registry. In: Bartsocas CS, Loukopoulos D, eds. Genetics of hematological disorders. Washington, DC: Hemisphere Publishers, 1992:241-258.

Magalini SI, Scrascia E. Dictionary of medical syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.