A rare birth defect known as phocomelia can occur in your baby. This rare condition, which affects babies at birth, causes the upper or lower limbs, such as the arms and legs, to be underdeveloped or may even fail to grow at all.
This rare condition results in shortened bones, causing other limbs to become compressed or fail to develop altogether. In some cases, phocomelia can also cause the fingers to fuse together.
This condition can be caused by a genetic syndrome or exposure to certain medications during pregnancy. To learn more about this rare birth defect in newborns, read the full article below.
What Is Phocomelia?
Phocomelia (also known as fokomelia) or amelia is a rare condition that causes extremely short limbs. This condition is a type of congenital disorder, meaning it is present at birth.
According to WebMD, phocomelia can vary in type and severity. This condition may affect a single limb or even all of a child’s arms and legs. The limbs may be shortened, underdeveloped, or fail to grow entirely. In some cases, the fingers may be fused or not develop at all.
If all four limbs (both legs and arms) fail to develop, it is called Tetraphocomelia. “Tetra” means four, “phoco” means seal, and “melos” means limb. This term refers to the way the hands and feet appear. The hands may be attached directly to the shoulders, while the feet may be attached to the pelvis.
Phocomelia is often associated with issues during early pregnancy, specifically within the first 24 to 36 days of life when the fetus begins developing limbs.
If this process is disrupted, cells may not divide and grow properly. This can interfere with normal limb development, ultimately leading to phocomelia.
According to Verywell Family, phocomelia can be classified into several main types: complete phocomelia, proximal phocomelia, and distal phocomelia.
- Complete Phocomelia: A condition where the arms do not develop, causing the hands to be directly attached to the shoulders.
- Proximal Phocomelia: The upper arm or thigh does not develop, resulting in the forearm being attached to the shoulder.
- Distal Phocomelia: The forearm and lower leg are absent, with the hands instead being attached to the humerus.
Symptoms of Phocomelia
According to Verywell Family, phocomelia can appear in varying degrees of severity. The following are observable symptoms:
- Abnormal condition of the arms and legs
- Hands directly attached to the shoulders
- Feet directly attached to the thighs
- Underdeveloped bones in the hands and feet
- Issues with shoulder and hip joints
- Eye problems
- Ear problems
- Internal organ issues
- Central nervous system abnormalities
If pregnancy nausea medication (which is now banned), such as thalidomide, is the cause of phocomelia, the symptoms are likely to be more severe. This is because thalidomide can affect almost every tissue and organ.
Together, these issues are known as thalidomide syndrome or thalidomide embryopathy. In addition to phocomelia symptoms, other possible symptoms include:
- Syndactyly (webbed fingers or toes)
- Polydactyly (extra fingers or toes)
- Heart problems
- Kidney and urinary tract issues
- Intestinal abnormalities
- External and internal genital abnormalities
- Blindness
- Deafness
- Nervous system irregularities
- Underdeveloped shoulder and hip joints
Causes
The causes of phocomelia involve multiple factors. Here are some of them, as explained by Healthline.
1. Genetic or Inherited Syndrome
Phocomelia can be genetically inherited within families. This condition is linked to abnormalities on chromosome 8.
Phocomelia is an autosomal recessive trait, meaning both parents must carry the abnormal gene for a child to inherit the condition.
In some cases, spontaneous genetic defects can cause phocomelia. This means the mutation is new and not related to an inherited disorder.
2. Thalidomide-Induced Phocomelia
Another cause of phocomelia is thalidomide, a medication that pregnant women may have taken during the first trimester of pregnancy.
Thalidomide was introduced as a sedative in 1957. For about five years, it was used to treat various conditions, including morning sickness and pregnancy-related nausea. Initially, it was considered extremely safe and not associated with any side effects.
However, it was later discovered that thalidomide use during early pregnancy caused birth defects. Various abnormalities were reported, but the most common was phocomelia.
Due to these severe side effects, thalidomide was withdrawn as a pregnancy medication in 1961. However, babies with thalidomide-related conditions were still being born until 1962. The drug caused birth defects in more than 10,000 babies worldwide.
Today, thalidomide is used to treat conditions such as Crohn’s disease, multiple myeloma, and Hansen’s disease (leprosy). If you are prescribed thalidomide, it is crucial to ensure that you are not pregnant.
Risk Factors
These risk factors may also contribute to the likelihood of a pregnant woman giving birth to a child with phocomelia:
- Substance use, such as alcohol or cocaine during pregnancy
- Gestational diabetes
- Exposure to X-ray radiation
- Blood flow problems during pregnancy
Diagnosis
Phocomelia is a rare disorder characterized by shortened limbs. According to Verywell Family, to help manage this condition, the first step doctors take is to perform a physical examination of the newborn’s organs. This examination is conducted to diagnose phocomelia or other possible genetic conditions and to determine the most suitable treatment.
In some cases, prosthetic limbs may be recommended to add length or replace missing limbs.
Management and Treatment of Phocomelia
There is currently no cure for phocomelia. However, the following treatment options can help manage its symptoms:
Prosthetics
Prosthetics are artificial limbs that attach to the body. They can either extend existing limbs or replace missing ones. This can make daily activities easier, ultimately improving overall quality of life.
Therapy
Treatment may also include various forms of rehabilitation, such as therapy:
- Occupational therapy – Helps individuals with phocomelia learn how to perform daily tasks more easily.
- Physical therapy – Improves movement, strength, and posture.
- Speech therapy – Assists in overcoming speech difficulties.
Surgery
Surgical treatment for phocomelia is rare and is usually only considered if the condition is caused by genetic mutations.
There is no single surgical procedure for phocomelia, but if surgery is recommended, it may involve:
- Correcting structural issues in the face
- Stabilizing joints
- Lengthening existing bones
- Improving thumb opposition (the ability to rotate the thumb)
The best treatment option depends on which limbs are affected by phocomelia.
To properly support a child with phocomelia, parents and individuals with this condition are encouraged to seek professional therapy. This can be extremely helpful in managing the emotional and psychological challenges of raising a child with special needs.
Possible Complications
According to WebMD, phocomelia can lead to serious complications early on, including a higher risk of stillbirth. Babies with this condition often require additional medical care after birth.
Most complications occur before or during birth. However, once the baby is born, there are treatment options available to help manage the condition.
Prevention
Preventing phocomelia involves limiting the use of medications that pose a high risk during pregnancy. Always consult an obstetrician before taking any medication.
Additionally, during pregnancy, mothers should avoid:
- Alcohol
- Smoking
- Drugs or strong medications
- Exposure to radiation, unless medically necessary and recommended by a doctor
Expecting mothers should also attend regular prenatal checkups and maintain proper nutrition to support a healthy pregnancy.
