| Hypochondroplasia | |
|---|---|
 | |
| Hypochondroplasia is autosomal dominant in inheritance. | |
| Specialty | Medical genetics  |
| Symptoms | Skeletal dysplasia[1] |
| Causes | FGFR3 gene mutation[2] |
| Diagnostic method | Physical finding, X-ray[3] |
| Treatment | Special 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]
- ^ a b Cite error: The named reference
nih2was invoked but never defined (see the help page). - ^ a b "Hypochondroplasia - Genetics Home Reference". Retrieved 2009-03-12.
- ^ 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
- ^ "Dwarfism: MedlinePlus". NIH. Retrieved 21 December 2016.