Phocomelia is a rare birth defect where one or more limbs are shortened or missing due to genetic mutations or environmental factors. It can also be inherited and may be associated with other abnormalities. Accommodations and treatments such as surgery and occupational therapy can help those with phocomelia.
Phocomelia is a form of birth defect in which the long bones of one or more limbs are missing or shortened. As a result, the entire limb is foreshortened. The limb may appear similar to a pinball machine, explaining the name, which comes from the root words for “seal” and “limb.” This birth defect is quite rare. Babies born with this condition may require surgery to address other abnormalities that sometimes co-occur with phocomelia.
There are several ways phocomelia can develop in utero. One is a spontaneous genetic mutation, usually triggered by environmental pressures. Notoriously, the drug thalidomide that was once prescribed to pregnant women can cause phocomelia, and some people refer to this condition as “pseudo-thalidomide” in reference to this. Once people stopped prescribing this drug to pregnant women, the incidence of phocomelia dropped dramatically.
This condition can also be inherited. Families can carry recessive genes for phocomelia that are passed on to a child who can, in turn, develop the condition. Having one or more foreshortened limbs does not necessarily mean that the trait will be passed on or that the trait will manifest itself in exactly the same way in a child. The genetics can be very complicated and the interactions of several recessive genes can be involved in the expression of phocomelia. Interested individuals can speak to a genetic counselor about the specifics of their case and their concerns.
In addition to shortened limbs, the condition can also be associated with defects in the heart, kidneys or uterus. Abnormalities of the skull may also appear, and some people experience facial paralysis, scoliosis, and other problems in combination with phocomelia. Some of these conditions can be diagnosed at birth, while others can be discovered later in life and may require treatments such as reconstructive surgery. The condition can also appear with amelia, in which a limb is completely absent.
Individuals with phocomelia may need some accommodations; for example, someone with a shortened limb may need special controls for a car to be able to drive safely, and accommodations such as devices to hold things in place can be helpful for people with shortened arms. An occupational therapist can work with someone who has phocomelia to discuss potentially helpful adaptations and modifications that will allow the person to navigate a world that was designed for people who have full use of all four limbs.
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