ACHONDROPLASIA Literally means “without cartilage formation” Most common type of dwarfism. Caused by mutation of gene for (FGFR3) Average height is about 4 ft. Short arms and legs. Large head.
Achondroplasia is one of a group of disorders calledchondrodystrophies or osteochondrodysplasias. May be inherited as an autosomal dominant trait, which means thatif a child gets the defective gene from one parent, the child will havethe disorder.
SIGNS AND SYMPTOMS Abnormal hand appearance with persistent space between the longand ring fingers Bowed legs Decreased muscle tone Disproportionately large head-to-body size difference Prominent forehead
Shortened arms and legs (especially the upper arm and thigh) Short stature (significantly below the average height for a personof the same age and sex) Spinal stenosis Spine curvatures called kyphosis and lordosis
DENTAL CORRELATION The administration of thyroid hormone is known to acceleratedental development and eruption His dental development is still extremely retarded and isfollowing a disturbed pattern in which various stages of dentaldevelopment are present simultaneously
SINGLE GENE It is considered as single gene because only the Fibroblast GrowthFactor Receptor Gene 3 is affected which is also important in themaintenance of bone and brain tissues