https://padlet.com/216286/qqevdb0h8148 Period 7 HAP en-us 2019-10-23 23:13:18 UTC 2025-10-30 19:34:35 UTC hello@padlet.com 216286 https://padlet.com/216286/qqevdb0h8148/wish/401768294 Achondroplasia is a disorder that prevents cartilage from turning into bone younger ages where the body is still growing. The effect of this disorder on the body is that since long bones (typically in the legs and arms) cannot be grown properly, dwarfism is the outcome. Other effects are having a large head and small fingers as well as limited range of motion at the elbows.]]> 2019-10-23 23:15:14 UTC https://padlet.com/216286/qqevdb0h8148/wish/401768294 216286 https://padlet.com/216286/qqevdb0h8148/wish/401770663 Achondroplasia occurs in 1 in 15,000-40,000 newborns worldwide.]]> 2019-10-23 23:25:01 UTC https://padlet.com/216286/qqevdb0h8148/wish/401770663 216286 https://padlet.com/216286/qqevdb0h8148/wish/401772224 (80-99% of people with the disorder have these symptoms)

-Abnormality of the metaphysis (wide portion of the long bone)
-Rib abnormalities
-Nasal tip is upturned
-Chronic infections of the middle ear
-Depressed nasal bridge
-Outward bowing at the knees
-Hyperlordosis (prominent swayback)
-Macrochepaly (increased size of scull)
-Short limb dwarfism recognizable at birth
-Disproportionately short upper portion of limb
-Extra bones within cranial sutures]]> 2019-10-23 23:31:45 UTC https://padlet.com/216286/qqevdb0h8148/wish/401772224 216286 https://padlet.com/216286/qqevdb0h8148/wish/401773849 Achondroplasia occurs when theres mutations in the FGFR3 gene. This gene's job is related to the development of bone and brain tissue.]]> 2019-10-23 23:38:35 UTC https://padlet.com/216286/qqevdb0h8148/wish/401773849 216286 https://padlet.com/216286/qqevdb0h8148/wish/401775467 The long bone in the arm, the humerus, is shortened in cases of Achondroplasia. The stature of a person with this disorder would be below 4 feet 6 inches in most cases.]]> 2019-10-23 23:45:36 UTC https://padlet.com/216286/qqevdb0h8148/wish/401775467 216286 https://padlet.com/216286/qqevdb0h8148/wish/401776822 Somatotropin, a recombinant growth hormone, is the most known treatment for the disorder at this time. Growth hormone (GH) revolutionized the treatment of short stature in patients with achondroplasia. The greatest acceleration of growth velocity in patients is seen in the first year of treatment. 

Dwarfism is easy to spot after a few years and the symptoms of achondroplasia become prominent. This often leads to test being done to diagnose the disorder.]]> 2019-10-23 23:50:21 UTC https://padlet.com/216286/qqevdb0h8148/wish/401776822 216286 https://padlet.com/216286/qqevdb0h8148/wish/401778752 Diagnosis for genetic diseases and disorders is really challenging. For achondroplasia the diagnosis comes from lots of different tests including:

-Mutation scanning of select exons 
-Mutation scanning of the entire coding region
-Deletion/duplication analysis 
-Targeted variant analysis 
-Linkage analysis
-Sequence analysis of select exons 
-Sequence analysis of the entire coding region 

]]> 2019-10-23 23:58:35 UTC https://padlet.com/216286/qqevdb0h8148/wish/401778752 216286 https://padlet.com/216286/qqevdb0h8148/wish/401780134 2019-10-24 00:05:09 UTC https://padlet.com/216286/qqevdb0h8148/wish/401780134