Hypochondroplasia

Hypochondroplasia
Hypochondroplasia is autosomal dominant in inheritance.
SpecialtyMedical genetics 
SymptomsSkeletal dysplasia
CausesFGFR3 gene mutation
Diagnostic methodPhysical finding, X-ray
TreatmentSpecial 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 and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.

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