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Achondroplasia: Treatment, symptoms, advice and help

About achondroplasia

Achondroplasia is a rare genetic disorder which affects the skeletal system of the body. The most prominent feature of achondroplasia is short stature or dwarfism with normal intellect.

Achondroplasia: Incidence, age and sex

Achondroplasia is a rare disorder with an incidence of 1 in every 15000. It is the most common cause of dwarfism. It has no gender predilection and affects males and females equally.

Signs and symptoms of achondroplasia: Diagnosis

The features of achondroplasia are evident, right at the time of birth. A person with achondroplasia typically has a large head with short arms and legs. The stature is short with a maximum attainable height of 4 feet. Intellect and life span are normal. Following are some other features:

  • Distinguishing facial features include prominent forehead and flattened bridge of nose.
  • Hands are small and broad with a breach between middle and ring finger.
  • Feet are small in size and flat.
  • Spine is markedly curved backwards. Sometimes back hump is also observed.
  • Physical milestones like standing, walking are delayed due to poor muscle tone.
  • Dental abnormalities like over crowding of teeth are common.
  • Other abnormalities include knock knee and bow legs.

Causes and prevention of achondroplasia

Achondroplasia is a result of a mutated gene, FGFR3, resulting in the inhibition of bone and cartilage growth. This causes disproportionate physical growth. This gene can have spontaneous mutations, chances of which are amplified with paternal age of 40 years or more. Alternatively it can be passed on through an achondroplasic parent or a normal parent who is carrying a mutated FGFR3 gene. Achondroplasic parents should always consider genetic counselling before planning a family.

Achondroplasia: Complications

The skeletal deformities in achondroplasia may cause many complications. The abnormal spinal curvature including the abnormal size of vertebrae may compress the spinal cord causing numbness and weakness in legs. A more serious condition, sleep apnoea, in which the patient has breath holding spells during sleep can also result from spinal cord compression. A person with achondroplasia may have enlarged tonsils which can obstruct breathing and narrow ear canals which causes frequent ear infections. Such recurrent ear infections should not be ignored since they may lead to hearing loss.

Achondroplasia: Treatment

At present there is no standard treatment which can completely cure this condition. Some treatment modalities like injecting the human growth hormone to enhance physical growth or leg lengthening surgeries have been done. But there are no clear and positive data regarding such treatment.

Some lifestyle modifications which aim at maintaining ideal weight are helpful. Obesity may precipitate skeletal problems in people with achondroplasia. Thus it is very important to incorporate regular physical activity and appropriate diet in order to prevent obesity.

Complications, if any should be treated timely. It is advisable to consult a respiratory physician if one feels sleepy in spite of keeping normal sleeping hours. Any kind of breathing problems should immediately be examined and dealt with. If there is obstruction of breathing due to large tonsils, it is recommended to get tonsils removed surgically. Recurrent ear infections can be treated with middle ear drainage tubes.

People with achondroplasia have a normal life span with no health problems if they maintain their weight and get any concurrent complication treated immediately.