Coffin-Lowry syndrome

Other Names:
Coffey-Lowry syndrome produces both mental and physical disabilities. It is thought to be non-progressive, although there is general agreement that facial coarsening and skeletal involvement become more pronounced with age.
A woman who has the CLS gene has a 50% chance of having a child with CLS. It is possible for a mother with no symptoms or family history of CLS to have an affected child. In the case of a spontaneous mutation such as this, the risk of having another affected child is very low. There are no recorded cases of an affected male producing offspring, so the ability of CLS males to father affected children is not known.
Medicine Pathology
Problem Type:
G: Very specific problems
Date of last update
04.10.2020 – 22:48 CEST