Furthermore, the Fgfr3 deficient mice have no apparent phenotype in craniofacial skeleton 12,13, while CATSHL syndrome patients exhibit craniofacial skeleton phenotypes such as microcephaly, high palate and wormian bones 1-3. The gene discussed is FGFR3; the disease is Camptodactyly - tall stature - scoliosis - hearing loss.