Phocomelia Syndrome is a birth defect in which the limbs are extremely shortened so that the feet and hands arise close to the trunk. Phocomelia can also be responsible for the absence of pelvic and thigh bones.
Causes of Phocomelia Syndrome
When Phocomelia is genetically passed, the National Organization for Rare Disorders (NORD) notes an irregular number of chromosomes as a possible cause. Because of the apparent excess or lack of chromosome copies, an uneven number is formed. This hinders the matching and joining of the chromosome pairs, creating malformations of the body.
This particular birth defect spiked worldwide in the 1950s when the drug Thalidomide was prescribed. It served as a mild sedative to ease the discomfort of nausea and insomnia for pregnant mothers. Although scientific studies have proven Phocomelia did exist prior to the introduction of Thalidomide, widespread severe fetal abnormalities multiplied with the new drug. The global tragedy has greatly shaped how the U.S. Food and Drug Administration tests and monitors drugs before approval.
Phocomelia Syndrome Symptoms
While the severity of the syndrome ranges, extreme cases of Phocomelia can include the following side effects in addition to shortened limbs:
- Mental deficiencies
- Shorter neck length
- Encephalocele (a sac-like protrusion of the brain)
- Increase pressure within the skull as a result of excess cerebrospinal fluid
- Malformation of the uterus, urethra, kidney or heart
- Lack of platelets to effectively clot blood
Phocomelia Syndrome Treatment
Upper- and lower-extremity prostheses are available for missing or deformed legs and arms as a result of Phocomelia. Modern day prostheses are developed for comfort and achieve a more natural look with a wide range of skin pigments. They can also greatly improve patients’ daily life independence. Infants with Phocomelia can be introduced to artificial limbs as early as 6 months to begin adapting to life with a prosthetic.