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presentation on achondroplasia by Ariel Shelley and Zachary Carroll

Ariel Shelley

on 11 February 2013

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Transcript of Achondroplasia(Dwarfism)

Achondroplasia (Dwarfism) By Ariel Shelley and
Zachary Carroll History of Achondroplasia Achondroplasia was discovered by Dr.John Wasmuth and his team of scientists in 1994 but he only published the cause of achondroplasia which mainly stated that achondroplasia is caused by the fibroblast growth factor receptor-3 gene which is part of chromosome 4.
A French scientist named Pierre Maroteaux has done research on dwarfism and was the first to mention dwarfism. A French physician named Maurice Lamy and her team studied the order and number of chromosomes of patients who are dwarfs. Dr.John Wasmuth
1947-1996 (49 yrs old) Pierre Maroteaux
1926- (87 yrs old) Maurice Lamy
1895-1975 (80 yrs old) Diagnosis & Inheritance The diagnosis for achondroplasia is ifthey have a short stature. You can also tell if somebody has achondroplasia is if they were to take an x-ray of themself their bones would be smaller than a person who doesn't have achondroplasia. A person can inherit this disorder from autosomal inheritance if a parent has achondroplasia which is autosomal dominant or if there is a mutation in FGFR3 gene in parent's egg/sperm cell. Signs and Symptoms Some signs of achondroplasia are if pregnant the ultrasound shows excessive amniotic fluid surrounding the unborn infant, child's head increased front-to-back in size, and when the infant has weak muscle tone(hypotonia). Some symptoms of achondroplasia are having short arms and legs but having a big head, frontal bossing(prominent forehead), mid-face retrusion(mid-face hypoplasia), and for infants hypotonia and developmental motor milestones(aberrant in pattern or delayed). Treatment There are early treatments to either help prevent or lessen some prodlems associated with dwarfism which may include:
a tracheotomy
insertion of a shunt to drain excess fluid
corrective surgeries for deformities
physical therapymto stregthen muscles
back braces
orthodontic treatment
nutritional guidence and exercise Facts About Achondroplasia people who have achondroplasia have average-sized parents
over 80% of individuals with achondroplasia have parents with normal stature
people who have achondroplasia have 1 faulty copy of the FGFR3 gene and one working FGFR3 gene copy
sometimes the person with achondroplasia is the first in the family with the condition Citations "Achondroplasia." PubMed Health. N.p.. Web. 5 Feb 2013.

"Who Discovered Dwarfism?." Who Discovered It?. N.p.. Web. 5 Feb 2013.

"Achondroplasia." NCBI. N.p.. Web. 5 Feb 2013.

"Learning About Achondroplasia." National Human Genome Research Institute. N.p.. Web. 5 Feb 2013.

"Dwarfism." WebMD. N.p., 6 11 2012. Web. 7 Feb 2013.

"Achondroplasia and Other Short Stature Syndroms." Centre for Genetic Education. N.p.. Web. 7 Feb 2013. Description Achondroplasia is a genetic disorder in which cartilage fails to develop into bone during early stages of development which leads to dwarfism.
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