Coffin-Lowry syndrome

Last revised by Rohit Sharma on 20 May 2024

Coffin-Lowry syndrome (CLS) is a rare X-linked genetic syndrome affecting multiple body parts.

The condition tends to affect males much more due to its X-linked inheritance. The estimated incidence is at around 1:40,000-50,000.

It is characterized by a number of clinical features which include:

It is caused by mutations in the RPS6KA3 gene located at Xp22.2. A majority of cases are thought to arise from de novo mutations.

It is named after the American pediatrician Grange S Coffin who described it in 1966 and Irish-Canadian physician Robert Brian Lowry who described in 1971 4,5.

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