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Achondroplasia

Achondroplasia. Giovanni Correa 4 th Block Teacher: Mrs. Rogers. Achondroplasia. Common names: Dwarfism Short Stature. Type of Disorder. Gene mutation. A mutation in the FGFR3 gene (134934.0001) causes achondroplasia. Autosomal dominant disorder.

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Achondroplasia

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  1. Achondroplasia Giovanni Correa 4th Block Teacher: Mrs. Rogers

  2. Achondroplasia Common names: • Dwarfism • Short Stature

  3. Type of Disorder • Gene mutation. • A mutation in the FGFR3 gene (134934.0001) causes achondroplasia. • Autosomal dominant disorder. • Occurs in approximately 1 in 26,000 to 1 in 40,000 births.

  4. CHROMOSOME GRAPHIC

  5. SYMPTOMSOF ACHONDROPLASIA The following are the most common symptoms: • shortened arms and legs, with the upper arms and thighs more shortened than the forearms and lower legs • large head size with prominent forehead and a flattened nasal bridge • crowded or misaligned teeth

  6. SYMPTOMSOF ACHONDROPLASIA • bowed lower legs • flat feet that are short and broad • poor muscle tone and loose joints • frequent middle ear infections which may lead to hearing loss • normal intelligence • delayed developmental milestones such as walking (which may occur between 18 to 24 months instead of around one year of age)

  7. DIAGNOSTIC TESTING • Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete medical history and physical examination. DNA testing is available before birth for parents who are at increased risk for having a child with achondroplasia.

  8. PROGNOSIS • In most of the cases, the person with Achondroplasia lives a normal life time. • Currently, there is no way to prevent or treat achondroplasia, since the majority of cases result from unexpected new mutations. Treatment with growth hormone does not substantially affect the height of an individual with achondroplasia. Leg-lengthening surgeries may be considered, in some very specialized cases.

  9. TREATMENT • Different types of surgeries may help in different aspects of the disease, but there is no cure for it!

  10. CURRENT RESEARCH • There is research into the family of genes called fibroblast growth factors, in which the gene that causes achondroplasia is included. The goal is to understand how the faulty gene causes the features seen in achondroplasia, in order to lead to improved treatment. These genes have been linked to many heritable skeletal disorders.

  11. GENETIC COUNSELING • A individual with achondroplasia who has a reproductive partner with normal stature has a 50% risk in each pregnancy of having a child with achondroplasia. • When both parents have achondroplasia, the risk to their offspring of having normal stature is 25%; of having achondroplasia, 50%; and of having homozygous achondroplasia (a lethal condition), 25%.

  12. Both parents are heterozygous for Achondroplasia. (AaXAa) A a AA Aa A Aa aa a PUNNETT SQUARE

  13. Little Person

  14. A GREAT STORY In 1957, well-known actor Billy Barty made a national public appeal for all little people in America to join him for a gathering in Reno, Nevada. Mr. Barty and 20 other little people joined together for a week of sharing and learning that they were not alone in facing the challenges of dwarfism. Little People of America was formed! Today, Little People of America, the largest organization in the world devoted to people of short stature, has more than 5,000 members and assists in the formation of related groups throughout the world.

  15. CREDITS • http://jrrogers.wikispaces.com/ • http://www.kumc.edu/gec/support/ • http://www.kumc.edu/gec/support/dwarfism.html • http://www.lpaonline.org/mc/page.do • http://medical.lpaonline.org/ • http://medical.lpaonline.org/dwarfism_types/resourcelist.php?infotype=dwarftypes&typename=Achondroplasia&id=1

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