Coffin-Lowry syndrome

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Disease Overview

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.[2342]


Synonyms

  • Mental retardation with osteocartilaginous abnormalities
  • CLS
  • Coffin syndrome

For more information, visit GARD.

National Organization for Rare Disorders