Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

FGFR3

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Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.