What Is Phocomelia?

Causes of Phocomelia

Phocomelia affects approximately 0.62 out of every 100,000 live births. It may be noticed during pregnancy scans or identified at birth through physical examination. There are a number of known causes of phocomelia, but in many cases, the exact cause is not clear. Some common phocomelia causes are:

• Genetic changes:

Phocomelia can be inherited and is linked to an abnormality in chromosome 8. It is passed on in an autosomal recessive pattern. This means both parents must carry the faulty gene for the child to be affected. In other instances, it may result from a spontaneous genetic mutation that is not inherited.

• Medicines during pregnancy:

Some medicines, such as thalidomide (used in the 1950s and 1960s), were found to cause phocomelia when taken during early pregnancy. Thalidomide is used to treat conditions such as Crohn’s disease, multiple myeloma, and Hansen’s disease (leprosy). If you are prescribed thalidomide, please make sure you are not pregnant.

• Other reasons:

Certain factors during pregnancy may increase the risk of phocomelia, including substance use such as alcohol or cocaine, gestational diabetes, exposure to X-ray radiation, and problems with blood flow to the developing baby.

In some cases, doctors are unable to find a clear explanation. Parents with a family history or past cases of birth conditions should speak to a doctor before planning a pregnancy, and having family health insurance may help manage related medical consultations and screenings.

Signs and Symptoms

Phocomelia can look different in each baby. Some of the ways it may present include:

• Arms or legs that are much shorter than usual

• Limbs missing bones

• Hands or feet attached close to the shoulder or hip.

• Poorly formed fingers or toes

• Affected bones or joints that are stiff or shaped differently

It can affect one arm or leg (on one side) or both arms and legs. Sometimes, it comes with problems in the eyes, spine, or other organs, making health insurance essential to manage potential treatment costs and ongoing care.

Along with the visible limb changes, babies with phocomelia may show other signs like:

• An unusually short neck

• Persistent vomiting or severe headaches

• A bulge near the brain, known as an encephalocele

• Increased pressure inside the skull due to fluid buildup (hydrocephalus)

• Low platelet count, which can lead to complications with blood clotting

• Problems in the heart or brain, in some cases

Complications

Without proper care and support, phocomelia may lead to:

• Limited movement:

Children may find it hard to do everyday tasks like feeding or dressing themselves.

• Delayed growth:

Bones and muscles may grow at a slower rate or remain underdeveloped.

• Associated health issues:

Some children may also have other developmental or medical conditions, such as intellectual disabilities or abnormalities of the heart, spine, or intestines.

Early help and support from doctors, parents, and schools can significantly improve quality of life. Using tools like walking aids or limb support devices can also help.

Treatment

The amount of damage to the limbs will determine the treatment. Some options are:

• Physical therapy:

To help improve balance, strength, and mobility.

• Occupational therapy:

To support the child in performing everyday tasks independently.

• Prosthetic limbs or orthotic devices:

To assist with walking, grasping objects, or other functions.

• Surgery:

In some cases, surgery may be done to improve the function of a limb, stabilise joints, or preserve a limb.

Conclusion

While phocomelia is rare, it can impact a child’s growth, movement, and life in many ways. Knowing the phocomelia causes and getting early treatment can help the child live a better life. However, managing the condition through therapy, assistive devices, or surgery can be expensive. In such cases, having good health insurance can help cover the treatment costs and ease the financial burden.

One of the important components of our overall wellness is also being financially secured. Healthcare emergencies can happen any time, but a good health insurance policy can protect you from such uncertain situations. To know more about Wellness and other health related tips, visit the wellness corner.

Sources: ncbi.nlm.nih.gov, webmd.com, tgh.org, healthline.com

Disclaimer: This blog provides general information and discussions about health and related subjects. The information and other content provided in this blog, website or any linked materials are not intended and should not be considered or used as a substitute for medical advice, diagnosis or treatment. Kindly contact your doctor before starting a new medicine or health regime.

Related Articles

Bipolar 1 Disorder - Symptoms, Causes & Treatment

What are the types of dissociative disorders

Adjustment Disorder - Symptoms, Causes, and Treatment

Panic Disorder - Causes, Symptoms, and Treatment

Illness Anxiety Disorder & Its Classification

Published on August 28, 2025