Hypochondroplasia | |
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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]
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