Defining Achondroplasia

Achondroplasia is a medical condition which results in a person having a very short stature – short arms and legs. It can also be called dwarfism and is caused by a genetic mutation. Apart from the obvious features, people with the condition also have short fingers, a disproportionately large head and underdeveloped lower half of the face.

Why Does It Happen?

Since this mutation occurs on the 4th chromosome, it can occur in both boys and girls. It is not an inherited condition for most – only in 20% of people. If one parent has a defective FGFR3 gene, then a child can get it. Achondroplasia means “without cartilage formation”. The average height of a person with this condition is 4 feet and a few inches in both men and women.

What Are the Achondroplasia Symptoms?

Part of the condition is that cartilege that is formed during fetal development does not convert into bone as it should, in the normal course of development. Genetic mutation causes too much of a protein to be produced, interfering with the normal formation of a skeleton. Achondroplasia symptoms include

  • abnormal hands with too much space between fingers
  • little or decreased muscle tone
  • bowing in legs, prominent forehead
  • underdevelopment in the lower half of the face
  • lack of proportion in the size of body to head
  • very short limbs
  • ear infections and possible hearing loss

Achondroplasia can result in delayed learning and motor skills, sleeping problems like apnea, compression in the spinal cord, water on the brain and a few other serious issues. Children and adults alike may struggle with bending joints like elbows, recurring ear infections and even curvature in the spine.

How is it Diagnosed Through Tests?

It can be diagnosed by doing molecular tests. Mutations are usually found in the FGFR3 gene which is essential in protein production required for the development of bones and brain tissue. It can also be detected through ultrasound images late in the pregnancy and confirmed on physical exams after birth.

What Precautions Should One Take?

Diagnosing the condition early can help in preventing or even lessening some of the issues associated with this condition. Those with serious medical or orthopedic conditions may need a tracheotomy to improve their breathing, corrective surgery for problems with club foot, bowed legs or even cleft palate. Surgery is another possibility for those who have spinal cord problems. Physiotherapy is used to help in improving range of motion in joints and also to make muscles stronger.

Is the Condition Preventable?

If the condition is diagnosed early, severity can be lessened. There are no known cures for the condition. Patients are usually treated with growth hormones and the long term effects are not completely clear to researchers.

What Treatments Are Available and How Much Do They Cost?

Somatotropin, also known as recombinant human growth hormone has helped immensely in treating patients with this condition. It helps people grow taller and results are most visible in the first year of treatment. Patients may have to undergo surgery for problems related to the condition. Good nutrition and dietary therapies also go a long way. There are a few drugs on the market which can be used to treat achondroplasia. These have to be administered while the child is still growing. It works by turning off the FGFR3 gene and letting bones grow normally. Some drugs have shown promise in the research stage and not yet ready for human use.