Achondroplasia

GENERAL INFORMATION

Achondroplasia means without cartilege formation. It is a genetic condition which causes a person to be abnormally short. Everyone who has this disease are usually at an average height of about 52 inches for males and 49 inches tall for females. This disease is the most common cause of short statured people. This disorder is one of bone growth. The long bones have trouble growing into their full sizes. The intelligence level is of a normal human being, just the anatomy is very off and non symmetrical.

SYMPTOMS

Symptoms will start at birth and be very noticable. A baby who has Achondroplasia usually has a long chest and very short extremities. All of these will be very disproportioned including having a larger head than most babies. Joints will be able to extend longer than normal and fingers will be both short and long. A small hump in the back may also be visible to some along with bowed legs.

DIAGNOSIS

Achondroplasia is usually either diagnosed at birth by the baby's abnormal and dis-proportioned limbs and physical features, or it can also be diagnosed by recieving x-rays, ultrasounds, or other imaging modalities. To diagnose before birth there is a special procedure that is done to specifically look at the cells and that procedure is called chorionic villus sampling or CVS.

TREATMENT

There is no known cure from preventing or treating Achondroplasia. Because of this treatment usually involves trying to prevent or treat the signs and symptoms that may be a result of the disorder such as: Reduced strength, reoccuring ear infections, breathing disorders, obesity, croweded teeth.

MRI SAGITTAL T1 WEIGHTED IMAGE