Diagnosis of hypochondroplasia (pathogenic variants c.1620C>A (p.Asn540Lys) and c.1620C>G (p.Asn540Lys) in the FGFR3 gene)

Hypochondroplasia is a skeletal dysplasia leading to dwarfism, similar in many respects to achondroplasia, but with less pronounced skeletal anomalies. It is characterized by a stocky build, shortened limbs and fingers, enlarged hands and feet, slight limitation of mobility in the elbow joints, and lumbar lordosis. The cause of hypochondroplasia is pathogenic variants in the fibroblast growth factor receptor 3 type (FGFR3) gene, in 40-60% of cases in exon 13 (c.1620C>A and c.1620C>G). Aberrations in exons 5, 7, 10, and 15 are also possible.

Within 12 days