Phocomelia - Shortened or Absent Arms or Legs

When parents give birth to children, they are expecting this perfect bundle of joy to be placed in their arms. Unfortunately, life does not always begin with the perfect creation. Phocomelia is a congenital disorder that presents with a reduction in length of the long bones of the legs and / or arms. In some cases, the hand or foot is attached to the end of the shortened appendage, but in other cases there is no hand or foot at all. There are many reasons why this can happen, but the two most common causes are genetic inheritance and drug use.

In the late 1950s, thalidomide was available by prescription only. The medication was used to fight anxiety and stress related problems. By the end of the 1950s, the drug was also being used in pregnant women who had trouble controlling morning sickness and nausea. In 1960, the drug was released as an over the counter medication and women no longer needed a prescription to take the thalidomide. The result was fatal for some babies and deforming for others.

The drug thalidomide is directly related to birth defects. Today, doctors understand that thalidomide can be used in certain medical cases but it is no longer prescribed to pregnant women due to the increased risk of miscarriage and deformed or missing limbs. When taking thalidomide during pregnancy, the fetus was self aborted in 50% of the cases.

Another cause of phocomelia is genetic inheritance. The gene that causes it is a recessive gene. This means both parents need to have the same gene in order for the characteristics of the birth defect to appear. If one parent has the gene and the other parent does not, the recessive nature of the gene stops the defect from occurring. As a matter of fact, only 25% of the pregnancies between two recessive gene carriers will show the signs of phocomelia.

Phocomelia is closely related to phocomelia syndrome. While phocomelia only affects the limbs, Phocomelia Syndrome can affect the face, neck, ears and eyes. Internal symptoms may also present in cases of phocomelia syndrome including defects of the heart, kidneys, digestive tract, lungs, genitalia and more. The majority of these symptoms are related to the cases caused by thalidomide. Of the 50% of children born after taking thalidomide, only 40% survived.

The Treatments of Phocomelia
There are very few treatments that will help to construct the missing limbs. The resulting lack of nerves and bone tissue leave surgeons with very little to work with during reconstruction which is why very few surgeries are performed on children or adults with this type of limb deformity. However, some reconstruction may be performed if there is a physical condition causing pain or restriction that can be corrected with surgery.

Parents often think their children will lead less full lives if they are born with phocomelia. This is far from the truth. There are famous drummers, artists, singers and parents have all been affected by this defect and thrived.