Coffin-Lowry syndrome
Coffin-Lowry syndrome (CLS) is a rare X-linked genetic syndrome affecting multiple body parts.
Epidemiology
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.
Clinical presentation
It is characterized by a number of clinical features which include:
- central nervous system
- intellectual disability
- sensorineural hearing loss
- craniofacial anomalies
- microcephaly
- prominent forehead
- hypertelorism
- flat nasal bridge
- downward sloping palpebral fissures
- wide mouth with full lips
- skeletal anomalies
Pathology
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.
History and etymology
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 .
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Assoziationen und Differentialdiagnosen zu Coffin-Lowry-Syndrom:
