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Hypochondroplasia

From SNPedia

Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 FGFR3 gene, resulting in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body.

Hypochondroplasia is classified as a form short-limbed dwarfism, and although it shows some resemblance to achondroplasia (also associated with FGFR3 mutations), it is usually milder.Wikipedia