Achondroplasia Treatment

Achondroplasia is a genetic disorder. It is a condition that results in abnormally short height and is the most common cause of short height with excessively short limbs. The normal height of an adult with achondroplasia is 131 cm, which is 4 foot 4 inches in males and 124 cm, which is 4 foot 1 inch in females. The exact means of achondroplasia is "without cartilage formation," the defect in achondroplasia is not in forming cartilage, but in turning it to bone, specifically in the long bones.

Indication of achondroplasia 

Achondroplasia is a unique condition that mostly can be noted at the time of birth.
The child with achondroplasia has a relatively long, narrow torso with short arms and legs and an irregular shortening of the proximal segments of the limbs (the upper arms and thighs).

In this condition there is a typically large head with prominence of the forehead (frontal bossing), underdevelopment (hypoplasia) of the midface with cheekbones that lack prominence, and a short nasal bridge with narrow nasal passages.

In this condition fingers of the child appear short and the ringer and middle fingers diverge giving the hand a trident (three-pronged) shape. Many joints can extend more than normal. For instance, the knees can hyperextend further the normal stopping point. Not all joints are lax like in this way. However, extension and rotation of the elbow are adversely limited. Hip extension is also limited.

At the time of birth there is often prominence of the mid-to-lower back with a small hump. With walking, the hump goes away and a lordosis of the lumbar region commonly known as lower back becomes apparent. The lumbar lordosis is persistent. The legs are bowed.

The baby shows some decline in muscle tone (hypotonia). Because of the large head, especially compared to rest of the body, and the declined muscle tone, the child suffers from achondroplasia will run behind "schedule" in reaching the usual motor developmental milestones.

Intelligence is usually normal in victims of achondroplasia. Enlargement of the brain (megalencephaly) is normal with achondroplasia.

Gene causes achondroplasia 

Achondroplasia causes by the mutations in the FGFR3 gene, which codes for a protein which is fibroblast growth factor receptor 3 this is substantial for the maintenance of bone and brain tissues. The mutation restricts the process of ossification, or the formation of bone from cartilage. The FGFR3 gene is placed on the short (p) arm of chromosome 4 in chromosome band 4p16.3.

Children and adults suffering from achondroplasia can live normal lives provided they receive attentive, informed care by their doctors and parents. Attention in monitoring children with achondroplasia which include careful measurements of development (length/height and weight) and head circumference using curves specially standardized for those with achondroplasia. Knowledgeable pediatric care and regular orthopedic and neurologic examinations are critical.

When special problems which make achondroplasia complicate, prompt and expert intervention is important. For instance:

The foramen magnum, which is the large opening under the skull may need to be surgically enlarged in cases of stern narrowing and compression of the spinal cord.

The back of victims suffering from achondroplasia can develop a marked sway to the lower back while disabilities in the mid-back may bring about a small hump in babyhood and compression of the spinal cord in adolescence. The spinal cord compression may require surgery to decompress it.

Orthopedic procedures may be carried out for lengthening of the limb bones and correction of bowed legs.

Surgery like lumbar laminectomy is also used when spinal stenosis causes symptoms, which tends to be noticeable in young adults.

Imbalance between the brain and the base of the skull can sometimes result in the form of hydrocephalus which means water on the brain which needs to be immediately detected and treated by placing a shunt to get rid of the excess fluid.

Pregnant females with achondroplasia should be delivered their babies cesarean section, due to their small pelvis, and severe risk of birth related trauma.

Middle ear infections are common and can also cause mild to moderate hearing loss. As a result, ear infections should be quickly suspected and treated with antibiotics or with ear tubes.