Coffin-Lowry syndrome

Coffin-Lowry syndrome is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary from person to person; however, males are typically more severely affected than females. Signs and symptoms may include distinct facial findings, short stature, microcephaly, kyphoscoliosis, other skeletal abnormalities, stimulus-induced drop episodes, intellectual disability and delayed development. Mutations in the RPS6KA3 gene cause the syndrome. It is inherited in an X-linked dominant fashion. Treatment is symptomatic.^[1]

Limited information about the effects of diet on CLS is available. We found one article (2006), ATF4 mediation of NF1 functions in osteoblast reveals a nutritional basis for congenital skeletal dysplasiae, that discusses how a high-protein diet prevented and reversed the skeletal findings associated with CLS in mice. In this study, the diet was provided from the first day of gestation to 28 days of age and resulted in a greater number of mice surviving past one month of life. When these mice returned to a normal diet after one month of age, they began to show symptoms of CLS which suggested to authors that the diet may also be effective after birth, if continued. Although the mouse studies are encouraging, to our knowledge, the impact of a high-protein diet in humans with CLS has not yet been researched. 

No specific treatment for Coffin-Lowry exist. Proper management of patients with CLS, includes surveillance by performing regular hearing, dental, and vision tests; annual heart examinations; and periodic monitoring for kyphoscoliosis. Medications such as valproate, clonzapam or selective serotonin uptake inhibitors might be prescribed for drop episodes. Surgery may be performed for skeletal deformities.^[2]

A GeneReviews on Coffin-Lowry syndrome has been published and includes information regarding medical management and surveillance. Click on the link to learn more.