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Achondoplasia

Achondoplasia

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Achondoplasia

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Presentation Transcript

  1. Achondoplasia Achondroplasia is the most common type of dwarfism.

  2. Genetics of Disorder • Autosomal Dominant gene • Found on chromosome 4 • Autosomal disorder

  3. Symptoms • shortened arms and legs, • large head size • crowded or misaligned teeth • curved lower spine - a condition also called lordosis • small vertebral canals (back bones) • bowed lower legs • flat feet • extra space between the middle and ring fingers (trident hand) • poor muscle tone and loose joints • frequent ear infections could cause hearing loss • normal intelligence • delayed developmental milestones

  4. What Age do Symptoms start • child is born with the disorder the symptoms with affect them at birth Life Expectancy Normal Life expectancy unless complications occur. ex. Brain stem compression Respiratory abnormalities

  5. Prenatal Tests • Fatal Ultrasound • Dna Tests Post Natal • Physical Examination • Medical History

  6. Statistics • Prevalence: 1 in 25,000 • 65,000 on Earth… 5,000 in USA • No sexual predilection • Not found in any specific ethnicity

  7. Is it preventable? • You can not prevent achondroplasia. It deals with the phenotype of the parents. • Since the chromosome is known they are doing tests to find out more information.

  8. Cures • Currently no cure

  9. Treatments • Currently no treatments • limb lengthening is a choice but not recommended (lengthens arms and legs)

  10. L.P.A. • Little People of America • Organization for little people and their families • Helps little people live more comfortable lives