Phocomelia is a rare type of birth defect which affects a persons upper and lower limbs.
People who are born with the Phocomelia birth defect their bones of the affected limb are either missing or underdeveloped.
The limb is, therefore, extremely shortened and in severe cases, the hand or foot may be attached directly to the trunk.
The most well-known cause of the phocomelia birth defect is the use of a drug called thalidomide during pregnancy.
Thalidomide was once marketed as a safe drug for pregnancy.
It was used for treating anxiety and morning sickness.
Thalidomide supposedly cured depression, gastritis, and insomnia.
Phocomelia remains the most striking limb deformity caused by thalidomide, and remains the stereotypical image of thalidomide embryopathy.
Phocomelia occurs through a severe shortening of the limb/s, due to proximal elements (long bones) being reduced or missing and leaving distal elements (handplate) in place.
The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones.
Usually the upper limbs are not fully formed and sections of the "hands and arms may be missing."
Short arm bones, fused fingers, and missing thumbs will often occur.
A condition called SC phocomelia syndrome was originally thought to be distinct from Roberts syndrome; however, it is now considered to be a mild variant.
"SC" represents the first letters of the surnames of the two families first diagnosed with this disorder.