Camptodactyly-tall stature-scoliosis-hearing loss syndrome
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Sign InDescription
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.
Mode of Inheritance
- Autosomal dominant inheritance
- Autosomal recessive inheritance
VARIANTS
14