Amelia (birth defect)

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  Tracy Lee Barrell during the medal ceremony of 1992 Paralympic Games

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  Amelia (birth defect)

Amelia (birth defect)

Amelia is a rare congenital disorder characterized by the complete absence of one or more limbs at birth. This condition can affect the arms, legs, or both, and is a result of disruptions during the early stages of limb development in the embryo.

Causes

Amelia can be caused by a variety of factors, including genetic mutations, environmental influences, and teratogenic agents. Some cases are linked to chromosomal abnormalities, while others may result from exposure to certain drugs or chemicals during pregnancy. Thalidomide, a drug once used to treat morning sickness, is a well-known teratogen that caused numerous cases of limb defects, including amelia, in the late 1950s and early 1960s.

Pathophysiology

The development of limbs in the human embryo begins around the fourth week of gestation. Amelia occurs when there is a disruption in the limb bud formation or growth during this critical period. This disruption can be due to genetic factors that affect the signaling pathways responsible for limb development, or due to external factors that interfere with normal embryonic growth.

Diagnosis

Amelia is typically diagnosed at birth through physical examination. Prenatal diagnosis is possible through ultrasound imaging, which can detect the absence of limbs in the developing fetus. In some cases, genetic testing may be conducted to identify any underlying chromosomal abnormalities or genetic mutations.

Management

Management of amelia involves a multidisciplinary approach, including orthopedic care, physical therapy, and the use of prosthetic devices. Early intervention and rehabilitation are crucial to help individuals with amelia achieve maximum functional independence. Psychological support and counseling may also be beneficial for the affected individuals and their families.

Prognosis

The prognosis for individuals with amelia varies depending on the extent of the limb absence and the presence of any associated anomalies. With appropriate medical care and rehabilitation, many individuals with amelia can lead fulfilling lives and participate in a wide range of activities.

Related pages

• Congenital disorder
• Limb development
• Teratogen
• Thalidomide
• Prosthesis