Last Reviewed June 9, 2009
Symptoms & Characteristics
Coffin-Lowry syndrome is a
genetic condition that affects various parts of the body. The signs and symptoms of the condition are typically more severe in males than in females, although the features of this disorder range from very mild to severe in affected women.
Affected males typically have severe to profound mental retardation and delayed development. Affected women may be intellectually normal, or they may have mental retardation ranging from mild to profound. Beginning in childhood or adolescence, some affected people experience brief episodes of collapse when excited or startled by a loud noise. These attacks are called stimulus-induced drop episodes (SIDEs).
Most affected males and some affected females have distinctive facial features such as a prominent forehead, widely spaced and downward-slanting eyes, a short nose with a wide tip, and a wide mouth with full lips. These features tend to become more pronounced with age. Additional features of this disorder include short stature; an unusually small head (microcephaly); soft hands with short, tapered fingers; progressive abnormal curvature of the spine (kyphoscoliosis); and other skeletal abnormalities.
Treatment
Early diagnosis, routine surveillance and treatment of Coffin-Lowry syndrome may help to manage some of the symptoms.
How Common Is It?
Researchers estimate that 1 in 40,000 to 1 in 50,000 people are affected with Coffin-Lowry syndrome; however, its exact incidence is unknown.
Genetics & Inheritance
Coffin-Lowry syndrome is caused by mutations in the RPS6KA3 gene.
Coffin-Lowry syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, males (who have one X chromosome in each cell) experience more severe signs and symptoms of the disorder than females (who have two X chromosomes in each cell). A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
About 70% to 80% of affected people are the first one in their family to be affected with the disorder. These cases are caused by new, sporadic mutations in the RPS6KA3 gene. The remaining 20% to 30% of affected people have other family members with Coffin-Lowry syndrome.
Genetic Testing
Clinical genetic testing for Coffin-Lowry syndrome may be available
through an in person genetic consultation for people who are considered at risk.
Use our find a genetic professional directory to locate a trained genetic professional
in your area.
Support & More Information
More information can be
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Alternative Names
- CLS
- Mental retardation with osteocartilaginous abnormalities