Phocomelia syndrome

Phocomelia syndrome

Description, Causes and Risk Factors:

Phocomelia is a rare birth defect that causes severe birth defects, especially of the upper limbs. The bones of the arms, and in some cases other appendages, may be extremely shortened and even absent. The fingers of the hands may be fused. An extreme case results in the absence of the upper bones of both the arms and legs so that the hands and feet appear attached directly to the body . This is called tetraphocomelia.

The cause of phocomelia syndrome is genetic inheritance. The inheritable form of phocomelia syndrome is a genetic disorder that is transmitted by an autosomal recessive trait on chromosome 8 at gene map locus 8p21.1. The gene that causes phocomelia is a recessive gene. This means both parents need to have the same gene in order for the characteristics of the birth defect to appear. If one parent has the gene and the other parent does not, the recessive nature of the gene stops the defect from occurring. As a matter of fact, only 25% of the pregnancies between two recessive gene carriers will show the signs of phocomelia syndrome.

This disorder may be genetically transmitted within families as an autosomal recessive trait or may be the result of spontaneous (sporadic) changes in the gene. Because the signs of the disorder so closely mimic those caused by the ingestion of thalidomide by pregnant women, the term "pseudo-thalidomide" is frequently used.

While phocomelia only affects the limbs, phocomelia syndrome can affect the face, neck, ears and eyes. Internal symptoms may also present in cases of phocomelia syndrome including defects of the heart, kidneys, digestive tract, lungs, genitalia and more. The majority of these symptoms are related to the cases of phocomelia caused by thalidomide. Of the 50% of children born after taking thalidomide, only 40% survived.


While there are many symptoms of Phocomelia syndrome, the most notable symptom is that of the deficiency of the limbs of the upper body; although, it's important to note that the limb defects are variable. The most common symptoms of Phocomelia Syndrome include:

    Often, the upper limbs are most affected while parts of the hands or arms are malformed or absent.

  • Development of the legs and feet may be present.

  • The limbs (hands or feet) may be closely attached to the torso.

  • Limbs may be abnormally small.

  • Intrauterine growth deficiencies may occur.

  • Infant growth may be stunted or slowed.

  • Cognitive development may be affected.

  • Hair may be a very light blond and sparse upon the head.

  • Head may be abnormally small (microcephaly).

  • A hemangioma (swelling or mass of blood vessels) may be present upon the face.

  • Eyes are often wide-set and have blue-tinged sclera.

  • The nose may be small and underdeveloped with very thin nostrils.

  • Cleft lip - with or without cleft palate - may also be evident.

  • Micrognathia - a smaller jawbone structure.

  • Cryptorchidism - undescended testicles may occur in male infants.


Generally speaking, phocomelia syndrome is usually diagnosed on a prenatal ultrasound of the fetus. While not a 100% success rate at diagnosis, ultrasounds are often reliable enough to suggest further testing. If not detected in utero, a physical examination of the infant can diagnose phocomelia syndrome.Unfortunately, there are no existing definitively accurate prenatal tests for phocomelia syndrome available.


Treatment for phocomelia syndrome is often planned while the child is an infant and focuses upon the severity of symptoms of the affected individual. Most of the treatment for phocomelia syndrome is supportive, allowing the infant to live a more normal life. Treatment for phocomelia syndrome may include the following:

    Artificial limbs may be used to replace any missing or shortened extremities.

  • Prosthetic appliances may be used for missing teeth.

  • Orthopedic braces.

  • Orthopedic appliances.

  • Therapies to treat any speech, cognitive and language delays.

Surgery: The lack of nerves and bone tissue leave surgeons with very little to work with during reconstruction which is why very few surgeries are performed on children or adults with phocomelia syndrome. However, reconstruction may be performed, to an extent, if there is a physical condition causing pain or restriction that can be corrected with surgery.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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