Achondroplasia

by Elif Kilicarslan
1.Symptoms
Symptoms of achondroplasia may include short stature, with a long torso and shortened limbs. A person with achondroplasia may have large hands with short and stubby fingers. The average adult height of a person with achondroplasia will be between 42 and 56 inches. Many people with the disorder may have a curve of the lower back which can cause a different walking pattern. People may have large heads with a large forehead or undeveloped faces. Some people may have issues with pain in the back or dental issues. Despite these symptoms, people with achondroplasia can still live fulfilling lives.

2. Genetic Cause
Achondroplasia is caused by a gene carried on the fourth chromosome.
Achondroplasia …show more content…
Their chance of having a child with achondroplasia is 50 percent. The chance of the child having two sets of the altered gene, and dying, is 25 percent.

4.Testing
Achondroplasia is diagnosed by x-ray findings and characteristic clinical findings. Gene sequencing can be used to detect rare mutations. Prenatal genetic testing can occur if the parent is affected with achondroplasia or if symptoms are seen in an ultrasound. If testing is on a baby in the womb, chorionic villus or amniocytes are used for testing. Testing after a baby is born can be done on peripheral blood. Normal parents with children who are found to have achondroplasia are not tested because the appearance of the disease is due to a random mutation and not inherited.

5.Lifestyle
People with achondroplasia do not have any problems with mental development. Those with achondroplasia have to adjust to their surroundings and have to get custom clothes, and can even custom their homes so that they can reach things. Driving is very difficult and they often get pedal extensions in order to have that ability. People with the disorder also have physical difficulties like bowed legs which may make it difficult to walk and requires surgery. People with achondroplasia can also have spinal problems which can put them in a wheelchair and also require