Achondroplasia

Achondroplasia

All About Achondroplasia

About

Achondroplasia

Extra

• Achondroplasia is a bone disorder that causes disproportionate dwarfism.
• This disorder is just as in common with males as in females.

History

Average height

• The gene that was responsible for Achondroplasia was discovered in 1994.
• The disorder was discovered by a team of scientists at the University of California.

How

common is it?

• The average height of adult males with achondroplasia is 52 inches (or 4 feet, 4 inches).
• The average height of adult females with achondroplasia is 49 inches (or 4 feet, 1 inch).

• Achodroplasia is the most common dwarism in the world.
• It occurs in one in every 15,000 to one in 40,000 live births.
• The disorder is more common in men than in women.

Health problems

• Apnea,
• repeating ear infections,
• obesity,
• compression of the upper end of the spinal cord,
• spinal stenosis,
• Hydrocephalus (fluid buildup in the brain,
• Kyphosis (a small hump in the upper back,
• Lordosis (inward curving of the lower back)

Treatment

What is the

treatment?

Medical Needs?

There is no

treatment for achondroplasia.

• Children who have achondroplasia need careful monitoring and support for social adjustment.

Antibiotics are given for ear infections and surgery may be performed in severe cases of spinal stenosis. Some doctors use growth hormones to increase the growth rate of a child's bones.

Inheritance

Gene that

caused disorder

These cases are

caused by spontaneous mutations

in the FGFR3 gene.

Inherited or Not?

• According to the National Human Genome Research Institution, in more than 80% of cases, are not inherited.
• About 20% of the cases are inherited.
• Meaning that only one parent needs to pass down a defective FGFR3 gene for the child to have this disorder.
• If only one perent has the condition, then the child has a 50% of getting the condition.
• If both parents have the condition, then the child has a 25% chance of being a normal stature and a 50% chance of having one defective gene, causing Achondroplasia.
• And a 25% chance of inheriting 2 defective genes, resulting in a fatal form of Achondroplasia called homozygous achondroplasia.

Symptoms

Part 2

Part 3

Health problems an infant may have include:

- decreased muscle tone, which can cause - delays in walking and other motor skills

- apnea (brief periods where breathing is - slowed or stops)

- hydrocephalus (water on the brain)

- spinal stenosis (a narrowing of the spinal canal that can compress the spinal cord)

Children and adults with achondroplasia may:

- have difficulty bending their elbows

- struggle with obesity

- experience recurrent ear infections, because of - narrow passages in the ears

- develop bowed legs

- develop an abnormal curvature of the spine (called kyphosis or lordosis)

- develop new or more severe spinal stenosis

Part 1

At birth, a child with this condition will likely have:

- short stature (significantly below average for age and sex)

- short arms and legs (especially the upper arms and thighs) in comparison to body height

- short fingers (the ring and middle fingers may also point away from each other)

- disproportionately large head compared to the body

- abnormally large forehead

- underdevelopment of the mid-face region (between the forehead and upper jaw)