LOWE’S SYNDROME

Lowe's syndrome (oculo-cerebro-renal syndrome) is an X-linked recessive disorder characterized by congenital cataracts, physical and mental retardation and renal tubular dysfunction (1).

• Mental retardation (100%).
• Growth failure (100%).
• Congenital cataracts (100%).
• Other features include areflexia, hypotonia, glaucoma, joint swelling and contractures (2).
• Inheritance - gene has been mapped to the long arm of the X chromosome (Xq25) (3).

REFERENCES

1. Lowe CU, Terrey M, Maclachlan EA. Organicaciduria decreased renal ammonia production, hydropthalmus and mental retardation. Am J Dis CHILD 1952;83:164.
2. Gaary EA, Rawnsley E, Marin-Padilla JM et.al. In utero detection of fetal cataracts. J Ultrasound Med 1993;4:234-236.
3. Okabe I, Attree O, Nelson DL et.al. A candidate gene for Lowe syndrome. Am J Hum Genet 1991;49:415.