How is achondroplasia diagnosed?

How is achondroplasia diagnosed?

How is achondroplasia diagnosed? Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete medical history and physical examination. DNA testing is available before birth to confirm fetal ultrasound findings for parents who are at increased risk for having a child with achondroplasia.

How is achondroplasia cured?

There’s no cure or specific treatment for achondroplasia. If any complications arise, then your doctor will address those issues. For instance, antibiotics are given for ear infections and surgery may be performed in severe cases of spinal stenosis.

When was the first achondroplasia case?

It was first described in ancient Egypt around 4500 bce and in Ecuador around 500 bce. The Greek derivative achondroplasia means “without cartilage formation.” In 1994, Rousseau and colleagues described a unique mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) as the primary cause of achondroplasia.

What part of the body does achondroplasia affect?

Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size (macrocephaly), small fingers, and normal intelligence.

What are the causes of achondroplasia in humans?

Achondroplasia is caused when certain directive genes of the body start performing improperly. This leads to the abnormal functioning of the fibroblast growth factor receptor i.e. proteins in the body.

How does the FGFR3 gene affect achondroplasia?

Achondroplasia is a condition that usually occurs due to gene alteration or mutation in the Fibroblast Growth Factor Receptor 3 gene. The FGFR3 gene gives birth to a protein known as Fibroblast Growth Factor Receptor 3 that is responsible for converting cartilage to bone.

What kind of physical therapy is needed for achondroplasia?

Special exercises or physical therapy can help. Achondroplasia results from specific changes (mutations) of a gene known as fibroblast growth factor receptor 3 (FGFR3). The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue.

How can a doctor tell if your baby has achondroplasia?

These tests look for the defective FGFR3 gene in a sample of amniotic fluid, which is the fluid that surrounds the fetus in the womb. Your doctor can diagnose your child by looking at his or her features. The doctor may also order X-rays to measure the length of your infant’s bones.

What are the effects of achondroplasia?

People with achondroplasia commonly have breathing problems in which breathing stops or slows down for short periods (apnea). Other health issues include obesity and recurrent ear infections. Adults with achondroplasia may develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs.

What are the symptoms of achondroplasia?

The following are the most common symptoms of achondroplasia, but each child may experience symptoms differently: shortened arms and legs, with the upper arms and thighs more shortened than the forearms and lower legs.

How many people in US have achondroplasia?

Achondroplasia is listed as a “rare disease” by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Achondroplasia, or a subtype of Achondroplasia, affects less than 200,000 people in the US population.

How often does achondroplasia occur in the population?

Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in one in every 15,000 to one in 40,000 live births. Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene.