Since the proband’s phenotype also showed similarity to CATSHL syndrome [13], caused by a loss-of-function mutation in the Fgfr3 gene, except for the absence of neurological symptoms, the Fgfr3 gene was analyzed as well as the natriuretic peptide precursor C (Nppc), Npr2, and Npr3 genes. The gene discussed is NPPC; the disease is Camptodactyly - tall stature - scoliosis - hearing loss.