Coffin-Lowry syndrome

Coffin-Lowry syndrome (CLS) is a rare X-linked syndrome.

Tends to affect males much more due to its x linked inheritance. The estimated incidence is at around 1:40000-50000.

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

Genetics

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 G S Coffin who described in 1966 and R B Lowry who described in 1971 4-5

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Article Information

rID: 13332
Synonyms or Alternate Spellings:
  • Coffin Lowry syndrome
  • Coffin Lowry syndrome (CLS)
  • Coffin-Siris-Wegienka syndrome
  • Lowry syndrome

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