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This WisdomCard managed by: Nicole Kinsey

Coffin Lowry Syndrome is a mutation in the RPS6KA3 gene. This affects many parts of the body, and affects males more severely than females; typically presenting with severe to profound mental retardation and delayed development. Facial features include a prominent forehead, widely spaced and downward-slanting eyes, a short flattened nose, and a wide full-lipped mouth.

Top Resources on Coffin Lowry Syndrome

• Wikipedia: Coffin-Lowry Syndrome
• Genetics Home Reference: Coffin-Lowry Syndrome
• CLSF: The Coffin-Lowry Syndrome Foundation
• National Organization of Rare Disorders: Coffin Lowry Syndrome
• MedlinePlus: Developmental Disabilities

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