Phocomelia syndrome

Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.

Phocomelia is a “congenital malformation” of development where the upper appendage of an arm or leg is absent so the hands or feet are attached to the body like stumps. The word phocomelia combines phoco—denoting seal and melia—denoting limb to signify a “limb like a seal’s flipper”[1] Although various numbers of factors can cause phocomelia, the prominent roots come from the drug use of thalidomide 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. The best fix for phocomelia is prevention of a pregnant woman taking thalidomide during pregnancy and prosthesis. Although operations can be done to fix the abnormality it is difficult due to the lack of nerves, bones, and other related structures.

Thalidomide is an “oral medication” prescribed today to cure certain skin conditions such as: leprosy, Behcet’s disease, dermatomyositis, and is currently being assessed for containment of HIV-related disease[2] (Thalidomide Article). According to Diane Calabrase and Teresa Odle, other studies propose thalidomide “can slow or stop the spread of cancer of the brain, breast colon, prostate, as well as multiple myeloma”[3] Although thalidomide has proven to be beneficial in many respects, if used during pregnancy, the effects on the fetus can be fatal.

Thalidomide was released into the market in 1957 in West Germany under the label of Contergam. Primarily prescribed as a sedative or hypnotic, thalidomide also claimed: to cure “anxiety, insomnia, gastritis, and tension.”[4] Afterwards it was used to combat against nausea and alleviate morning sickness in pregnant women. Thalidomide became an over the counter drug in Germany around 1960, and could be purchased without a prescription. Shortly after the drug’s selling, in Germany, between 5,000 and 7,000 infants were born with the qualities of phocomelia.[5] Out of these children merely 40% of them survived. Research also proves that although phocomelia was non-existent through the 40’s and 50’s, by time the drug was released in Germany in the 60’s, cases of severe phocomelia amplified; the direct cause was linked to thalidomide.[6] The statistic was given that “50 percent of the mothers with deformed children had taken thalidomide during the first trimester of pregnancy.”[7] Throughout Europe, Australia, and the United States, 10,000 cases were reported of infants with phocomelia; only 50% of the 10,000 survived.[8] Thalidomide became effectively linked to death or severe disabilities among babies. Those subjected to thalidomide while in the womb experienced limb deficiencies in away that the long limbs either weren’t developed or presented themselves as stumps. Other effects included: deformed eyes, hearts, alimentary, and urinary tracts, along with blindness and deafness.[9]

A genetic disease is inherited by an individual from the genes provided by their mother and father. Depending upon the grouping of these genes for a particular trait, determines whether or not an individual will inherit a certain disease. According to National Organization for Rare Dissorders (NORD): when phocomelia is transmitted [in its familial genetic form] it is seen as an autosomal recessive trait and the mutation is linked to chromosome 8[10]

Recessive genetic disorders occur when a person receives identical “abnormal genes” from both the father and mother.[11] If a person inherits one normal gene and one gene for the disease, the individual will become a carrier for the disease; however, they normally do not show symptoms. The chance for two carrier parents to both supply the defective gene and produce a child with symptoms is 25 percent with each pregnancy.[12]

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