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Achondroplasia

Achondroplasia. By: Justen Turner. What is Achondroplasia ?.

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Achondroplasia

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  1. Achondroplasia By: Justen Turner

  2. 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 • Chondrodystrophiafetalis • Chondrodystrophy syndrome • Congenital osteosclerosis • Dwarf, achondroplastic • Osteosclerosiscongenita

  3. Type of Disorder • Achondroplasia is a autosomal-dominantchromosomal disorder, which means the condition is caused by mutations in the genes.

  4. Chromosome Graphic

  5. Symptoms/Effects • Short Arms • Short Legs • Thick Arms • Thick Legs • Large Head • Small Face • Stubby Hands • Swollen Limbs However; • Normal size skull • Normal size spine • Normal intelligence • Normal sexual organs

  6. 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.

  7. Prognosis The prognosis of people with achondroplasiadepends 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.

  8. 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.

  9. Current research In 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.

  10. 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.

  11. Story Jason 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.

  12. 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

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