When talking about rare conditions, phocomelia is one of it. It is one of the rare birth defects wherein one or more limbs are missing or at least shortened. The limb may appear like a flipper and it is through this manifestation that phocomelia has been formed to describe this. Phoco means “seal” added to the word that means limb.
Phocomelia may have developed within the mother’ womb by either of the following:
- Genetic mutation happens when the mother ingests the drug thalidomide. This resulting damage called phocomelia is sometimes called “pseudo-thalidomide”.
- Recessive genes – Sometimes, families may have recessive traits that remained dormant for generations until one of the offspring may manifest it.
Signs and Symptoms:
- Absence of lower arm (on the ulnar and radial part) – most of the cases
- The area on the humerus is absent – second highest
- The femoral area is absent – with problems on the uterus if females
- The tibia and fibula is absent or shortened
- Generally the limbs affected are stiffened and has a limited range of motion
- Ultrasound – the mainstay diagnostic tool which is used at 12 weeks of pregnancy. At this time, the growth and formation of the arms and legs can already be outlined.
- An accurate diagnosis can be made through a complete physical examination after birth.
- Association with cardiac, renal or gynecologic defects.
- Skulls abnormalities as well as mental retardation
- Facial problems such as bell’s palsy
- Back problems such as scoliosis
At this point, there is no definite medical or surgical management have been discovered.
Most of the babies with this rare condition may die within the womb or shortly after birth due to the complications of the shortening of the limbs. Others may survive but with mental retardation as phocomelia may also affect the formation of the skull.
The role of a nurse in this scenario may be as follows:
- Advocate – You must stand on the rights of the client especially during the diagnostic stage. Ensure the privacy of the case as well as the individuals affected by this.
- Empathizer – As one of the supporting people in the health care team, assist the parents of the child in their grief. Understand them and their reactions about the condition. Provide appropriate information about the case as well as encourage verbalizations of feelings.