CATSHL syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss. The syndrome is caused by a missense mutation in the FGFR3 gene. FGFR3 is a negative regulator of bone growth, and its mutations are well known to cause a variety of short-limbed bone dysplasias and craniosynostosis syndromes. The finding of CATSHL syndrome indicates that abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth.
Mutations in FGFR3 cause different disorders.
FGFR3-related short limb skeletal dysplasias [DS:H00505]
Muenke craniosynostosis [DS:H00458]
Lacrimo-auriculo-dento-digital syndrome [DS:H00642]
