OSLAM syndrome

OSLAM syndrome is a rare autosomal dominant hereditary disorder. OSLAM is an initialism that stands for "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow syndrome". OSLAM syndrome was recognised and described by Mulvilhill et al. as a syndrome that increases susceptibility to tumours and is characterised by an impaired regulation of bone and marrow development.^[1][2]

Individuals with OSLAM syndrome have an elevated risk of bone cancer, limb abnormalities, and enlarged red blood cells.

Symptoms

• Bone cancer.
• Curved fifth fingers (clinodactyly) with brachymesophalangy.
• Absence of one digital ray of the foot.
• Bilateral radioulnar synostosis.
• Enlarged red blood cells.
• Dental decay.
• Short stature.

See also

• Li-Fraumeni syndrome

References

1. Mulvihill J.J., Gralnick H.R., Whang-Peng J., Leventhal B.G. (1977.) Multiple childhood osteosarcomas in an American Indian family with erythoid macrocytosis and skeletal anomalies, Cancer, 40(6):3115–3122.
2. Weber G.F. (2007.) Molecular Mechanisms of Cancer, Springer, pg. 558.