Coffin Lowry Syndrome WisdomCard

Our Guides and Physician Review team have organized the Top 10 Health Resources on Coffin Lowry Syndrome and compiled helpful research notes below.


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Research Notes on Coffin Lowry Syndrome


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.

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