camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized 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.
MONDO:0000429
autosomal genetic disease
is_a
MONDO:0019685
FGFR3-related chondrodysplasia
is_a
CATSHL syndrome
exact
CATSHLS
related