ACHONDROPLASIABy: Justen Turner

What is Achondroplasia?

Achondroplasia is a form of short-limbed dwarfism. The word Achondroplasia literally means "without cartilage formation”. However, the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly noticed in the long bones of the arms and legs. It is considered the most common of all condition of dwarfism.

Other names: ACH Achondroplasia dwarfism Chondrodystrophia fetalis Chondrodystrophy syndrome Congenital osteosclerosis Dwarf, achondroplastic Osteosclerosis congenita

Type of Disorder Achondroplasia is a autosomal-

dominant chromosomal disorder, which

means the condition is caused by mutations in the genes.

Chromosome Graphic

Symptoms/Effects

Short Arms Short Legs Thick Arms Thick Legs Large Head Small Face Stubby Hands Swollen LimbsHowever; Normal size skull Normal size spine Normal intelligence Normal sexual organs

Diagnosis Achondroplasia can be detected before

birth by the use of prenatal ultrasound. A DNA test can be performed before birth to detect homozygosity, where two copies of the mutant gene are inherited, a condition which is lethal and leads to stillbirths.

PrognosisThe prognosis of people with

achondroplasia depends on its the severity. In 2 to 5% of all cases, newborns do not survive more than 12 months after birth; however these cases are considered to be a severe form of the condition. Most people with this form of dwarfism should expect to live a normal lifespan.

Treatment There is no specific treatment for

Achondroplasia. Related abnormalities, including spinal stenosis and spinal cord compression, should be treated with surgery when they cause an individual problems or pain.

Current researchIn 2005, the American Journal of Medical

Genetics, reported that new research on Achondroplasia suggests new therapies to be further studied and tested on mice. The therapy works with growth hormones to help an individual afflicted with condition to grow.

Genetic counseling Unfortuately, Achodroplasia is

unpreventable because it is a result of totally unexpected gene mutations in unaffected parents. Genetic counseling can help people with achondroplasia and unaffected individuals who have had an affected child make informed decisions about family planning.

StoryJason Acuna, better known as "Wee-Man” who was one of the stars of “Jackass ", on MTV, is a famous actor who was born with Achondroplasia. He is 4 ft 0.5 in tall and he is also a professional skateboarder.

Credits www.geneclinics.org/profiles/achondroplasia/

details.html www.lpch.org/DiseaseHealthInfo/.../diabetes/

achondro.html www.umm.edu › Medical Reference › Encyclopedia www.wisegeek.com/what-is-achondroplasia.html bones.emedtv.com/bones/what-is-

achondroplasia.html http://www.crecimiento.org/2007/descargas/biblio/

recent_milestoones_in_achondroplasia.pdf http://www.marchofdimes.com/

birthdefects_achondroplasia.html