D2I2.
genetic

Hypochondroplasia

Hypochondroplasia (HCH) is a developmental disorder caused by an defect in the fibroblast growth factor 3 gene (FGFR3) that results in a disproportionately short , micromelia and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • ·

Causes — why it happens

  • ·FGFR3 gene

How it's found

  • ·Physical finding, X-ray

Treatment

  • ·Special education, Laminectomy
Plain-language summary adapted from Wikipedia. Not medical advice.