Phocomelia is a medical condition where the arms or legs of a developing fetus are underdeveloped or absent. The word phocomelia is derived from the Greek words ‘phoke’ which means seal and ‘melos’ meaning limb. It is pronounced as /foʊkəmiːliə/ and spelled as ‘phocomelia’ with the letter ‘ph’ that represents the /f/ sound. This is because it is a loanword derived from Greek, where the ‘ph’ is pronounced /f/ in words beginning with these letters.
Phocomelia is a rare congenital malformation, characterized by underdeveloped or absent limbs. In individuals with phocomelia, the bones of the arms or legs are significantly shortened, resulting in the limbs appearing flipper-like. The term "phocomelia" is derived from the Greek words "phoke," meaning seal, and "melos," meaning limb.
Phocomelia is usually caused by exposure to certain teratogenic agents during embryonic development, including thalidomide, certain medications, and environmental toxins. These substances can disrupt the normal formation and growth of limb buds, leading to severe limb abnormalities. Phocomelia may affect one or multiple limbs, and the severity can vary from partial absence or fusion of digits to complete absence of limbs.
Individuals with phocomelia face significant challenges in performing daily activities that require the use of limbs. They may require specific assistive devices or adaptations to enhance their mobility, independence, and quality of life. Additionally, associated health issues such as joint contractures and musculoskeletal abnormalities may require medical interventions or therapy.
Advancements in medical technology, including prosthetics, orthotics, and assistive devices, have greatly improved the functionality and quality of life for individuals with phocomelia. Ongoing research in genetics and developmental biology aims to further understand the underlying causes of phocomelia and develop potential preventive strategies or treatments.
The word "phocomelia" comes from the Greek words "phokos" meaning "seal" and "melos" meaning "limb". The term was coined by German physician Ernst Moro in 1919 to describe a rare congenital malformation where limbs are severely underdeveloped or absent, resembling the limbs of a seal.