What is it?

Coffin-Lowry Syndrome is a syndrome that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women. It is X-linked dominant. Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome. Because of the mutation on the gene, it affects the protein RSK2. That protein deals with cell signalling pathways that deal with learning and survival of nerve skills. Because of the lack of that protein, it is categorized as a mental retardation, thus prohibiting learning and anything dealing with the nervous system. There is no cure for Coffin-Lowry Syndrome, however, it is treatable. The treatment for CLS is speech and physical therapy and education services.

Characteristics

• Craniofacial: Prominent forehead/frontal bossing, relative macrocephaly, Hypertelorism, down slanting palpebral fissures, Anteverted nostrils, large ears, large mouth, full/everted lip. High mid-line palate, peg-shaped incisors. Coarsening facial features with age.
• Hands: Short, broad hands. Tapering, short, "puffy" finders.
• Skeletal: Progressive kyphosis, scoliosis, pectus carinatum/excavatum, joint hypermobility.
• Growth & Development: Small stature. Developmental delay (especially speech). Moderate to severe learning difficulties.
• Neurology: Hypotonia, seizures, stimulus induced drop attacks, sensorineural deafness.
• Heart: Mitral valve dysfunction seen in some cases.
• X-rays: Delayed bone age, metacarpal pseudo-epephyses, tufting ("drumstick appearance") of distal phalanges. Thickened calvarium.

Affected males - typically have severe to profound intellectual disability and delayed development.

Research and Support

The National Institute of Neurological Disorders and Stroke (NINDS) supports and conducts research on genetic disorders such as coffin-lowry to find ways to prevent, treat, and ultimately cure. NINDS is a part of the U.S. National Institutes of Health which conducts and funds research on brain and nervous system disorders and has a budget of just over $1.5 billion.

Coffin-Lowry Syndrome Foundation, to provide a clearinghouse for information on Coffin-Lowry Syndrome, and provide families affected by CLS a general forum in which to exchange information and advice. CLSF provides family matching services, telephone support, online discussion forum, and informational database and publishes a newsletter called CLSF News.

Sources

• https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#resources
• http://clsf.info/
• https://www.ninds.nih.gov/Disorders/All-Disorders/Coffin-Lowry-Syndrome-Information-Page
• http://jmg.bmj.com/content/39/10/705.full