Phocomelia: a rare birth abnormality

A 2-year-old male patient came to OPD of Mahatma Gandhi Ayurveda College, Hospital and Research Center, with complaint of underdeveloped right hand. On examination it is short in length as compared to normal and also there is absence of radius and ulna bones. Based on clinical features the provisional diagnosis Phocomelia was made. The upper and/or lower limbs may be affected by this uncommon birth abnormality. The bones of the affected limb are either absent or underdeveloped in those who have this disorder. As a result, the limb is drastically reduced in length, and in extreme cases, the hand or foot may even be directly connected to the trunk. The illness might affect only one limb or both the upper and lower limbs. The root cause of Phocomelia is frequently not well understood. It might be passed down through a genetic condition. The use of some medications by the mother during pregnancy, such as thalidomide, can also result in Phocomelia. There is no specific treatment for phocomelia. However, if it is part of a genetic syndrome, surgical intervention may be recommended for associated malformations. In addition, to meet the unique requirements of a child with phocomelia, parents, caregivers, and people with phocomelia alike are encouraged to seek professional therapy and prosthesis. It may be extremely helpful under any emotional and psychological strain of raising a differently-abled child.