What is Coffin-Lowry syndrome?
Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities. Some individuals also have cardiovascular disease. The disorder affects males and females, but symptoms are usually more severe in males. Neurological complications may include:
- Severe intellectual disability and delayed development in most cases (most severe in males)
- Reduced muscle tone (hypotonia)
- Seizures (in rare instances)
- Issues with speech
- Impaired hearing
- Problems with movement coordination
- Behavioral and sensory integration issues
- Progressive muscle spasticity or leg paralysis
- Loss of ability to walk
Characteristic facial features may include an underdeveloped upper jawbone, a broad nose, an abnormally prominent brow, down-slanting eyelid folds, widely spaced eyes, and large low-set ears. Skeletal abnormalities may include a curved spine, unusual prominence of the breastbone (pigeon chest), short stature, and narrowing of the spinal canal. The disorder is caused by mutations in the RPS6KA3 gene.
There is no cure and no standard course of treatment for Coffin-Lowry syndrome, which may include physical and speech therapy and educational services. Due to cardiac and respiratory complications, life span is reduced in some individuals with Coffin-Lowry syndrome.
How can I or my loved one help improve care for people with Coffin-Lowry syndrome?
Coffin-Lowry syndrome is considered a rare disease, which often means there is not much information known about it. This is usually the case because doctors and researchers do not see many people with Coffin-Lowry syndrome, which makes it hard to learn from them through observations or large studies.
Consider participating in a clinical trial so clinicians and scientists can learn more about the Coffin-Lowry syndrome and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Coffin-Lowry syndrome at Clinicaltrials.gov.
Where can I find more information about Coffin-Lowry syndrome?
The following resources may provide more information: