hypochondroplasia


Hipochondroplasia - a genetically conditioned, congenital disease (with autosomal dominant inheritance) leading to abnormal intraocular morbidity, which causes development of certain bones in the body and dwarfism. Hypochondroplasia was introduced into the medicine of Maroteaux and Lamy in 1961.

Persons affected by this disease are characterized by dwarfism (lack of growth) and disproportionate body structure. The head is normal, but it seems big because the torso and limbs are shortened. People affected by this disease, besides problems with the bone system, have no other defects and their intellectual development is usually normal.

Hypochondroplasia is a mutation of a single fibroblast growth factor receptor 3 (FGFR3) receptor gene on the chromosome 4.

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