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Phocomelia

Phocomelia Definition

What is Phocomelia? This is a congenital defect wherein the bones of one or more limbs are either missing or shortened. This leads to a flipperlike appearance of the limbs because the entire limbs are foreshortened. Although this condition is rare, children with afflicted with such condition may require surgery to address other deficits that may appear together with phocomelia.


Phocomelia has several names, and it includes Roberts SC-Phocomelia Syndrome, Roberts Tetraphocomelia Syndrome, SC phocomelia Syndrome, Pseudo-thalidomide Syndrome.

Phocomelia Symptoms

The following are the general symptoms of phocomelia syndrome:

  1. Growth retardation
  2. Mental deficits
  3. Defects on the eyes
  4. Defects on the nose
  5. Defects on the ears
  6. Underdeveloped limbs
  7. Short bones in the arms
  8. Absent arm bones
  9. Absent thigh bones

The following includes the severe symptoms of phocomelia:

  1. Skull fissure and brain projection also called as encephalocele
  2. Hydrocephalus or the accumulation of fluid in the skull
  3. Uterus is of abnormal shape
  4. Blood clotting is inefficient secondary to low levels of platelet in the blood
  5. Malformations of body organs such as the heart and the kidney
  6. Shortened neck
  7. Abnormalities in the urethra

The following are symptoms secondary to thalidomide syndromes:

  1. Facial palsies
  2. Abnormalities of the ear, eye, leading to limited visual functions as well as hearing
  3. Disorders of the gastrointestinal and the genitourinary tracts
  4. Undeveloped lungs or missing lungs
  5. Distorted digestive tract, heart, and kidney

Phocomelia Pictures

Phocomelia photosPicture 1 : Phocomelia (fingers)

image source: ajhg.org

Phocomelia

Picture 3 : Patient with a form of meromelia called phocomelia.

Image source: ggpht.com

Phocomelia Causes

The causes of phocomelia syndrome can be divided into genetic inheritance and thalidomide exposure. In the case of genetic inheritance, it is usually transmitted to the offspring through autosomal recessive trait specifically carried by chromosome 8. Recessive genetic disorders happen when the offspring receives abnormal genes both from the father and the mother. If the person received only one abnormal gene and one normal gene, then the person is just a carrier of the disorder.

During normal cell division, each chromosome is replicated to develop more cells for proper development of the human body. The original chromosome will then attach to the newly replicated chromosome. The centromere of the chromosome is usually where the new chromosomes attach, making sure that the copies of chromosomes are lined up together at the middle if the dividing cell. Once the cells are properly aligned, molecular spindles will attach to each copy and pull the original and the new chromosomes, allowing the cell to divide further.

In the case of individuals with phocomelia, the chromosome copies do not connect at the centromeres; therefore they do not line up properly as the cell divides. As a result, the cell is not able to divide further or the division is so slow, leading to the condition wherein newly developed cells having excessive or reduced numbers of chromosomes. The cells stopped from dividing, or perhaps some of them die, leading to the problems in the normal development of limbs in the body.

Thalidomide

Thalidomide was first introduced into the market in the year 1957 as a drug prescribed as a sedative, although it also claimed to treat bouts of anxiety, insomnia, gastritis, etc. Furthermore, it has also been found useful to alleviate symptoms of morning sickness especially in the first trimester of pregnancy. Thalidomide has become an over-the-counter drug in the year 1960. A few years after that, about five thousand to seven thousand infants were born with symptoms of phocomelia. Out of the total number of children born, only about 40 percent of them survived. Therefore, thalidomide was effectively linked to death in children and cases of phocomelia.

Diagnosis for Phocomelia Syndrome

The condition can be diagnosed during the twelfth week of pregnancy, through the use of ultrasound. Through ultrasound evaluation at this age, any problems of the development of the limbs can already be noted. In some cases, these problems cannot be diagnosed by ultrasound at all.

Another way of diagnosing phocomelia is through amniocentesis, wherein a sample of the cells of the fetus will be collected and evaluated. Although this procedure can be of help, however, this test is not recommended nowadays.

Although there is no accurate and exact prenatal test to completely diagnose this problem. However, a thorough physical examination of the patient’s symptoms is greatly recommended.

For home diagnostic techniques, the use of ADHD and concentration test kits can help in assessing the child’s behavior.

Phocomelia Treatment

As of this time, there is no known treatment of this condition; however, there are known ways to manage the symptoms associated with this rare condition. It is undeniable that the effects of phocomelia are debilitating to both the child as well as the family. The limbs are very essential to make someone live a normal life.

The use of prosthesis, which are adaptive devices, are found helpful in minimizing the effects of lost limbs, teeth, and other missing body parts. For many years now, the use of prosthesis has gained popularity not only because of the benefit it brings to those people who really need it, but also the evolution of the kind of materials used.

Nowadays, myoelectric prosthetic limbs have come into the picture, and these enable patients to move their limbs freely without the use of cords or wires attached to it. Other surgical procedures that are used to manage the symptoms of phocomelia include the following:

  1. Transposition of the metacarpal of the hand from the center to the edge
  2. Distraction of joints technique
  3. On-top plasty
  4. Nonvascular bone grafting method
  5. Vascularized transfer of the toe to the thumb
  6. Avascular transfer of phalanges from the foot
  7. In addition, proper and thorough examination done by the physician should be sought in order to address other symptoms that may bring more serious complications to patients, especially the young population, who are very vulnerable.

For babies who are severely affected usually die within the mother’s womb and those who survive are usually born with mental retardation.

It is indeed challenging for both the child and the mother having afflicted with such condition, but making someone, especially those affected with phocomelia syndrome, live a happy and normal life would give them the chance to live their life to the fullest.

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