Phocomelia


Phocomelia

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.

Although various numbers of factors can cause phocomelia, the prominent roots come from the use of the drug and from genetic inheritance. The occurrence of this malformation in an individual results in various abnormalities to the face, limbs, ears, nose, vessels and many other underdevelopments. Although operations can be done to fix the abnormality it is difficult due to the lack of nerves, bones, and other related structures.

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.

Throughout Europe, Australia, and the United States, 10,000 cases were reported of infants with phocomelia; only 50% of the 10,000 survived.

Symptoms:

Typically the symptoms of phocomelia syndrome are undeveloped limbs, mentaldecencies, and craniofacial anomalies. In severe cases encephalocele, hydrocephalus, bicornuate uterus, malformations in kidney andheart are found.

Diagnosis:

A clinical diagnosis of phocomelia is made in individuals with characteristic prenatal growth retardation, limb malformations, and craniofacial abnormalities.The diagnosis is often confirmed by cytogenetic testing in peripheral blood of individuals with suggestive clinical findings.

Treatment:

phocomelia

Prosthesis is a synthetic alternative for missing limbs, teeth, and various other body parts. Advances in prosthetic limbs have increased greatly during the twentieth century. The use of new materials such as modern plastics, complex procedures and better pigments have created lighter in weight and more realistic looking artificial limbs. With the advancement of myoelectric prosthetic limbs, patients are able to move their limbs without the use of cords or other devices. The myoelectric limbs can detect electric signals from the nervous system and muscles. They were first used on adults, but now they are being fitted to children. Patients that receive a loss of limbs due to phocomelia are typically treated with prosthetics. Infants at the age of 6 months are recommended to have a prosthetic mitten fitted; enabling them to get used to the prosthesis. A hook will be added when the child reaches the age of 2 years. Eventually the patient may receive a myoelectric prosthetic limb.

Individuals with phocomelia may need some accommodations; for example, someone with a shortened limb might need special controls for a car in order to drive safely, and accommodations such as devices to hold things in place. An occupational therapist can work with someone who has phocomelia to discuss potentially useful accommodations.

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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