Phocomelia

Phocomelia the word ‘phocomelia’ derives from the Greek word phoco, which means ‘seal’ and melia which means ‘limb’ and it refers to the similarity of the patients’ limb shape to the flippers on a seal. Phocomelia syndrome is a rare congenital disability that, in most cases, is characterized by a severe deformity of the limbs. Generally, people with this disorder, have bones with affected limbs that are either absentor poorly developed. In extreme instances, individuals with phocomelia have their hands or foots growing directly from the trunks. The association of the disorder varies from a particular limb to upper and lower limbs mutually. Where all four limbs are affected, it is known as tetra-phocomelia. While the exact cause of phocomelia is poorly understood, the condition can result from genetic inheritance. Alternatively, it can occur following maternal subjection to particular drugs (namely thalidomide) during pregnancy. In the 1960s, thalidomide- a drug intended to cure anxiety and morning sickness in pregnant mothers- was found to associate with phocomelia. Despite earlier declaration that the drug was harmless during pregnancy, it was withdrawn from the retailers in 1960s while clinicians noticed over 10,000 children were born with congenital disabilities from using phocomelia worldwide. And around forty percent of patients expired close to their time of birth due to the side effects of thalidomide. Despite being strictly regulated worldwide, incidents of thalidomide-induced phocomelia still predominates in underdeveloped countries where this drug is used as a treatment for leprosy. Phocomelia is reported to occur in 0.62 live births for every 100,000 deliveries. There is no precise medicaments for phocomelia. Nevertheless, surgical intrusion may be suggested for accompanying deformities if it is due to genetic inheritance. In some instances, prosthetic limbs may be recommended to add length or to make up for an absent limb. [Tania Rahman]