Achondroplasia

1. Describe, in detail, the main symptoms associated with the disorder.

People with achondroplasia generally have normal intelligence levels. Their

symptoms are mainly physical and not mental. The main symptoms associated witht

this disorder are short height that is drastically below average, short arms and legs,

short fingers in which the ring and middle fingers point away from each other, an

immensley large head compared to the body, an abnormally large forehead and an

underdeveloped area of the face between the forehead and upper jaw. These are

symptoms, at birth, a child will most likely have.

2. What is the prognosis for someone born with the disorder?

The prognosis for someone born with achondroplasia depends on how severe it

is. Patients who have two copies of the deficient gene FGFR3 (one from each parent;

homozygous) generally, only survive a few weeks or months after birth. Patients with

one copy of the deficient gene FGFR3 (from only one parent; heterozygous) have a

normal life span and intelligence.

3. What is the frequency of this disorder in the general population?

Achondroplasia is one of the most common type of dwarfism and occurs in 1 in

15 000 to 1 in 40 000 newborns worldwide. There is some evidence suggesting that

some populations have a higher incidence of the disorder. In Denmark, it is estimated

that achondroplasia occurs in 1 in 6400 births and in Latin America 1 in 10 000. There
 isn’t any proof regarding any particular race being more affected documented, however,

males and females are generally affected equally.

4. A) What is the genetic cause of the disorder? Be specific

Mutations in the FGFR3 gene cause achondroplasia.

B) What are the direct causes of this genetic disorder in terms of protiens produced or

not produced?

Two specific mutations in the FGFR3 are responsible ofr almost all cases of

achondroplasia. The protein building block amino acid glycine is replaced with the

amino acid arginine. Research shows that this genetic change leads to the disturbances

in the bone growth that occurs in this disorder.

5. How is the disorder inherited?

Achondroplasia may be inherited as an autosomal dominant pattern. If one

parent has achondroplasia, the baby has a 50% chajce of getting the disorder

and if both parents have the disorder, the chance of the baby inheriting the

disorder increases by 25%. In about 80% cases of achondroplasia, it is shown

that the parents of the infants are normal and have no affected family memebers.

6. How is this disorder detected?

Achondroplasia can be diagnoses before or after birth. It can be diagnosed

before by a fetal ultrasound or after by complete medal history and physical tests.

There is also genetic testing that can be done before birth to confirm fetal

ultrasound.

7. What treatments, if any, are there for someone who has the disorder?
 There is no cure or specific treatment for achondroplasia. If any complications

arise the doctor will address them, for example if there is a lot of bowing of the

legs, surgery might be the fix.

8. Interesting or additional useful information about the genetic disorder.

- 9 out of 10 children with achondroplasia have normal parents

- Achondroplasia means “without cartilage formations” and is a Greek word.

9. Visual Aid that will be used.

- Powerpoint

10. References used in collecting the informations.

- Achondroplasia. (n.d.). Retrieved January 19, 2018, from

https://rarediseases.info.nih.gov/diseases/8173/achondroplasia

- Achondroplasia. (2015, June 11). Retrieved January 19, 2018, from

https://www.myvmc.com/diseases/achondroplasia/#Statistics

- Achondroplasia - Genetics Home Reference. (n.d.). Retrieved January 19, 2018,

from https://ghr.nlm.nih.gov/condition/achondroplasia#inheritance

- Achondroplasia: Causes, Symptoms, and Diagnosis. (n.d.). Retrieved January 19,

2018, from https://www.healthline.com/health/achondroplasia#treatments

- Default - Stanford Children's Health. (n.d.). Retrieved January 19, 2018, from

http://www.stanfordchildrens.org/en/topic/default?id=achondroplasia-90-P01938