Phocomelia: a rare birth abnormality

¹Department of Kaumarbhritya, Mahatma Gandhi Ayurved College, Hospital and Research Centre, Constituent College of Datta Meghe Institute of Medical Sciences (Deemed to be University), Wardha, Maharashtra 442001, India

^&Corresponding author
Sayali Borse-Jichkar, Department of Kaumarbhritya, Mahatma Gandhi Ayurved College, Hospital and Research Centre, Constituent College of Datta Meghe Institute of Medical Sciences (Deemed to be University), Wardha, Maharashtra 442001, India

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A 2-year-old male patient came to OPD of Mahatma Gandhi Ayurved College, Hospital and Research Center, with complaint of underdeveloped right hand. On examination it is short in length compared to normal and there is also an 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.

Figure 1: phocomelia: a rare birth abnormality