Achonodorplasia+(Dwarfism)


 * Achondorplasia (Dwarfism) **[[image:http://babymed.com/App_Images/Content/dwarfism1.jpg width="223" height="190" align="right" caption="people affected by achondorplasia"]]

** Achondroplasia: ** Achondroplasia is also known as Ach, achondroplastic dwarfism, chondrodystrophia fatalis, chondrodstrophy syndrome, congenital osteoscierosis, dwarf achondroplastic, osteoscleosis congenital. This is the most common type of short-limbed dwarfism. Condition occurs in 1 in every 15,000 to 40,000 newborns.

Mutations in the FGFR3 gene cause achondroplasia.

The chromosome is on the FGFR3 gene.

Achondroplasia is inherited autosomal dominant pattern, which means one copy of the gene in each cell is able to cause the disorder. About 80 percent of people that have average size parents. Individuals who inherit this have two altered copies of this gene typically have very severe problems with bone growth, and are usually stillborn or die shortly after birth from respiratory failure.
 * How it’s inherited: **

** - ** Abnormal hand appearance with persistent space between the long and ring fingers. -bowed legs -Decreased muscle tone -Disproportionately large head-to-body size difference -prominent forehead -shortened arms and legs (especially upper arm and thigh) -short stature (significantly below the average height for a person of the same age and sex. -spinal stenosis -spine curvatures called kyphosis and lordosis.
 * Symptoms: **



** - ** There isn’t a treatment for this. Spinal stenosis and spinal cord compression should be treated when they cause problems.
 * Treatment: **


 * Facts: **
 * - ** X-rays of the long bones can reveal achondroplasia in the newborn. Prevention isn’t always possible for this disease. Genetic counseling may be helpful to parents who have this problem, it most often develops spontaneously.