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What is Phocomelia Syndrome?

Phocomelia syndrome is a rare birth defect characterized, in most instances, by severe malformation of the extremities. Infants born with this condition will have arms and/or legs that are severely shortened or sometimes completely absent. Fingers and toes are typically fused together, which causes a flipper-like appearance of the limbs. While the most common symptom of phocomelia is the deformation of the limbs, defects of the eyes, nose, and ears may also be present. Growth and mental deficits are also typically seen in people with phocomelia.

Causes

The cause of this condition has been strongly linked to the ingestion of thalidomide during the early stages of pregnancy. In the 1950s and 1960s, thalidomide was prescribed in various countries to pregnant women who suffered from morning sickness. However, ingestion of this drug was found to be directly related to phocomelia, other birth defects, and even death of the fetus, which is why it has never been approved by the Food and Drug Administration as safe for pregnant women to ingest. Phocomelia can also be idiopathic (no known cause) or genetically transmitted.

Treatments 

While there is no cure for phocomelia, treatment options have advanced in the recent years. Prosthetics can be used in place of absent limbs, and physical, occupational, and speech therapy are among the therapies used to promote the quality of life of the patient. Various types of surgery are also used to rectify deformations of the face.

At Tampa General Hospital’s Children's Medical Center, we utilize advanced technologies and integrated care to help treat phocomelia and other congenital birth defects. Our pediatric orthopedic surgeons, nurses, physical therapists, and other medical professionals work together to create personalized care plans for our patients, ensuring the treatment options utilized are best for each unique individual.

To use Tampa General Hospital’s Physician Finder to find a pediatric orthopedic surgeon, click here.