What is Phocomelia?
Phocomelia is a rare congenital disorder that leads to short limbs. It is present at birth.
The types and severity vary which means it might affect one limb, upper or lower, or all the four limbs. It is more commonly found affecting the upper limb.
The condition presents itself in the following ways:
- Limbs can be reduced or missing completely
- Fingers missing
- Finger fused
- All four limbs are missing (tetraphocomelia)
In severe cases, the hand and foot may be directly attached to the trunk.
Phocomelia is related to issues in early pregnancy as it is during this time the fetus begins to develop limbs.
Causes of Phocomelia
Though unclear, there are believed to be multiple factors that can lead to this condition.
Phocomelia is associated with an anomaly in chromosome 8 and can be passed down within families. It is an autosomal recessive trait which means both the parents need to have it in order for a child to suffer from it.
If a mother takes thalidomide during the first trimester of pregnancy, there are chances of the baby suffering from phocomelia.
Thalidomide is a sedative that was prescribed to reduce morning sickness and nausea during pregnancy. Because of various side effects, it was withdrawn as a pregnancy drug. It caused birth defects in more than 10000 babies around the world.(1, 2)
Other Causes of Phocomelia
The following factors during pregnancy can also lead to phocomelia:
Symptoms of Phocomelia
Shortened or missing limb is a major symptom of phocomelia. The condition might also affect eyes, ears, nose, growth, and cognition.
Phocomelia can include the following symptoms in addition:
- Heart problem
- Bowel abnormalities
- Kidney and urinary tract issues
- Nervous system irregularities
- Heart problems
- Underdeveloped shoulder and hip joints
Together these symptoms are known as thalidomide syndrome or thalidomide embryopathy.
Severe symptoms of phocomelia include:
- An abnormally shaped uterus
- Abnormality in the urethra
- Malformations in the kidney and heart
- Accumulation of spinal fluid under the skull causing migraines and vomiting
- Fissure of the brain and projecting skull
- Shortened neck
- Blood clotting problem due to low platelet count
There is no treatment for phocomelia but the symptoms can be managed in the following ways.
Prosthetics are the synthetic alternative for the missing limbs that can be attached to the body. It can help add length to any limb or replace the absent one.
With the advancement in myoelectric prosthetic limbs that can detect electric signals from the nervous system and muscles, an individual is able to move the limbs without the use of cords and other devices.
This helps make life easier and also improves the quality of life.
Therapies for Phocomelia
There are various forms of rehabilitation therapies for phocomelia such as:
Occupational Therapy: Helps a person with phocomelia to learn how to do daily tasks
Physical Therapy: Improves movement strength and posture
Speech Therapy: It can help manage speech
If phocomelia is due to genetic mutation, surgery is suggested. It is a rarely advised treatment.
Surgery for phocomelia can be recommended to:
- Correct structural issues in the face
- Stabilize joints
- Lengthen existing bones
- Improve thumb opposition.