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sugandha malik

on 3 March 2013

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Transcript of Achondroplasia

by Sugandha, Basma, Purshinder and Surrendra Genetic disorder- Achondroplasia What is Achondroplasia? As a consequence.. Do kids of affected parents also suffer? DIAGNOSIS Achondroplasia is a genetic condition that results in abnormally short stature with disproportionately short limbs.
The average height of an adult with Achondroplasia is 131 cm in males and 124 cm in females.
It is one of the oldest known birth defects.
The frequency of this disease worldwide is approximately 1 in 25,000 births. SYMPTOMS Short stature
Curved spine
Decreased muscle tone
Bowed legs
Prominent forehead
Shortened arms and legs
unusual hand appearance with space between the long and the ring fingers
large head-to body size difference. CAUSES Achondroplasia may be inherited as an autosomal dominant trait.
Achondroplasia (ACH) is caused by a mutation in FGFR3 (fibroblast growth factor receptor 3) on chromosome 4p in humans.
This nucleotide, # 1138 in exon 10 on chromosome 4, has the highest mutation rate known.
In 97% of patients, an adenine replaces the normal guanine at this position (observed in cDNA).
3% have a cytosine instead. Some examples Both mutations result in the production of the amino acid arginine instead of glycine.
Mitosis is promoted, but cell differentiation is depressed due to enhancement of gene function
Inhibits proliferation and terminal differentiation, resulting in reduced bone growth Achondroplasia can be detected by Prenatal Ultrasound.
It would show excessive amniotic fluid surrounding the unborn infant during pregnancy.
With this Examination you can observe that the infant after birth shows increased front-to-back- head size.
X-Rays of long bones can reveal achondroplasia in the new born too. Treatment There is no known or specific treatment for achondroplasia even though the cause of mutation has been found in the growth factor receptor.
New method of adding height, cal ed distraction osteogenesis, is being researched – Lengthen tibia bone with very few risks – Increase of 4.0 +/- 1.98 centimeters.
Gene Therapy possibility Carriers for this disease Achondroplasia is an Autosomal dominant disease.
There are no carriers for a dominant disease.
Everyone who has the genetic error gets the disease, because the bad gene is dominant.
It is either and often inherited by the parents or due to mutation in few cases. Difference between a carrier and the affected. In general, a carrier is when he contains the recessive gene for the disease bt do not have it. for ex. Rr
However this is an autosomal dominant disease so there are no carriers but only affected.
dd is normal.
Dd and DD both are affected.
therefore, even if the person has ONE capital D, he/she have the disease. Complications/issues of Achondroplasia. Sitting up, crawling and walking.
Ear infections (otitis media) and risk of hearing loss.
Bowing of the legs (genu varum).
Difficulty breathing during sleep (sleep apnea)
Pressure on the spinal cord at the base of the skull
Excess fluid around the brain (hydrocephalus) Weight gain that can further complicate problems with joints and the spine and place pressure on nerves.
Dwarfs are often put up for adoption.
Some people even stop and take photographs of them on the street.
Often get bullied. Continuation... What happens to the severity when passed from generation to generation? It may form a new mutation in a gene from average-sized parents.
Fathers who are older than 45 years of age, have the higher chances of having children's with certain autosomal dominant conditions.
kids who inherit a copy of abnormal genese from both parents will survive only for a few months.
In some cases, deaths often occurs in the first year due to increased pressure on the spinal cord because of abnormalities at the Craniocervical junction. Bibliography http://findmeacure.com/2011/01/27/achondroplasia/
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