Hypochondroplasia

Hypochondroplasia
Hypochondroplasia is autosomal dominant in inheritance.
SpecialtyMedical genetics Edit this on Wikidata
SymptomsSkeletal dysplasia[1]
CausesFGFR3 gene mutation[2]
Diagnostic methodPhysical finding, X-ray[3]
TreatmentSpecial education, Laminectomy [1]

Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia[3] and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.[2][4]

  1. ^ a b Cite error: The named reference nih2 was invoked but never defined (see the help page).
  2. ^ a b "Hypochondroplasia - Genetics Home Reference". Retrieved 2009-03-12.
  3. ^ a b Bober, Michael B.; Bellus, Gary A.; Nikkel, Sarah M.; Tiller, George E. (1 January 1993). "Hypochondroplasia". GeneReviews. PMID 20301650. Retrieved 18 December 2016.update 2013
  4. ^ "Dwarfism: MedlinePlus". NIH. Retrieved 21 December 2016.