Download presentation
Presentation is loading. Please wait.
Published byDoris Tyler Modified over 8 years ago
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
Similar presentations
© 2025 SlidePlayer.com. Inc.
All rights reserved.