Diseases title

Camptodactyly - tall stature - scoliosis - hearing loss )

Orpha Number: 85164
CATSHL syndrome

This 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.
source: Orphanet