Bloom syndrome

Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait spots. Affected individuals have an increased risk of developing malignancies.

Pathology

There is extreme chromosomal fragility observed in Bloom syndrome which is due to defect in DNA synthesis as a result of DNA ligase I deficiency and affected individuals show extreme hypersensitivity to ultraviolet rays. T-lymphocytes, B-lymphoblastoid and fibroblast cells are particularly affected.

Siehe auch:

• Progerie

und weiter:

• Café-au-lait-Fleck
• mandibuläre Retrognathie
• Mikrognathie
• DeSanctis-Cacchione-Syndrom