Hypochondroplasia

Hypochondroplasia
Hypochondroplasia
	Hypochondroplasia is autosomal dominant in inheritance.
Specialty	Medical genetics
Symptoms	Skeletal dysplasia
Causes	FGFR3 gene mutation
Diagnostic method	Physical finding, X-ray
Treatment	Special education, Laminectomy

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 nih2 was 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.

[nih2-1] Cite error: The named reference nih2 was invoked but never defined (see the help page).

[Reference-2] "Hypochondroplasia - Genetics Home Reference". Retrieved 2009-03-12.

[nih-3] 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.

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