Rare Diseases Symptoms Automatic Extraction

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.


Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACP). Fibroblast growth factor receptor 3 gene (FGFR3) mutations in the germline are well-known causes of skeletal syndromes. FGFR3 is a negative regulator of bone growth and all mutations in FGFR3 are gain-of-function mutations that lead to skeletal dysplasias. We report a child who presented with short stature, a relatively long trunk, short legs, short arm span, radiographic evidence of HCP and mild mental retardation. Genetic analysis revealed a heterozygous 1620C>G (Asn540Lys) mutation in FGFR3. To our knowledge, ours is the first case report of HCP with a heterozygous 1620C>G (Asn540Lys) mutation in Turkey.