page_title: Hypochondroplasia
section_title: Pathophysiology
hierarchical_section_title: Hypochondroplasia / Pathophysiology
caption_attribution_description: English: Cartoon representation of the molecular structure of protein registered with 1m61 code. Deutsch: Grafik des Molekularstruktur von jenem Protein, das mit 1m61 code registriert ist. Plattdüütsch: Grafik, de de Molekularstruktur von dat Protein wiest, dat mit’n Kood 1m61 registreert is.
context_page_description: Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene that results in a disproportionately short stature, micromelia and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.
context_section_description: This disorder results from mutations in the proximal tyrosine kinase domain of the FGFR3 gene. This gene plays an important role in embryonic development, playing a part in regulating activities such as cell division, migration and differentiation.
  Hypochondroplasia can result from p. Lys650Asn as well. In FGFR3, some 20 different mutations have been associated to hypochondroplasia, and it seems to have a role in skeletal dysplasia.
caption: TYK
exif: {}