Basics
Coffin Lowry Syndrome is a condition that affects both a person's physicality and mentality. Symptoms include abnormal facial structure, skeletal structure, muscle structure, intellectual disability, and delayed development. Symptoms are usually a lot worst in males, but females can also be affected just as much.
Inheritance
CLS is inherited in a X-linked dominance pattern. However, 70-80% of people with CLS have no history of CLS in their family. These cases are caused by a mutation in the RPS6KA3 gene. The other 20-30% of people with CLS have a history of CLS in their family. The frequency of CLS is uncertain, but scientists estimate that the disorder effects 1 in 40,000 people.
Diagnosis
Diagnosis of CLS is established with severe developmental delay, characteristic craniofacial and hand findings, and radiographic findings. It is mostly males who are diagnosed with CLS. Carrier females can be slightly affected by CLS.
Characteristics
Facial Structure: People with Coffin Lowry Syndrome will all (mostly) have the same facial structures. They will have hypertelorism (a greater distance between the eyes than normal), downward slanting eyes, a thick septum (a broad nose with more than normal area between nostrils), full and out-turned lips, prominent and low-set ears, prominent eyebrow ridges, and a thickened and smaller-than-normal skull.
Life Expectancy
Life span is sometimes reduced in people with CLS. Death occured in 13.5% of males and 4.5% of females at a mean age of 20.5 years (13-34 years).
Treatment
There is no cure or standard mode of treatment for CLS. Treatment is symptomatic and supportive, and may include physical and speech therapy, and educational services.
Life with CLS
A person with CLS has a very bright outlook on life. They will usually have a very bright personality, almost all the time. Despite their happy disposition, their lives are very hard. They need assistance walking, putting on clothes, etc.
Looking for a Cure
Organizations like the National Institute of Neurogical Disorders and Stroke (NINDS) are working hard to find cures for CLS, and many other genetic disorders.