Camptodactyly- tall stature- and hearing loss syndrome

Synonyms

CATSHL syndrome

Overview

A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment.

Symptoms

Symptoms include:

  • Camptotodactyly of finger
  • Hearing impairement
  • Scoliosis
  • Tall stature 
  • High palate

Causes

The cause is 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.