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]
^ abCite error: The named reference nih2 was invoked but never defined (see the help page).
^ ab"Hypochondroplasia - Genetics Home Reference". Retrieved 2009-03-12.
^ abBober, 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.
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