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Which genetic disorder is commonly associated with limb anomalies such as shortening or absence of limbs?

Question

Which genetic disorder is commonly associated with limb anomalies such as shortening or absence of limbs?

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Solution

The genetic disorder commonly associated with limb anomalies, including shortening or absence of limbs, is called Phocomelia. This condition is characterized by the abnormal development of the limbs, often resulting in very short limbs or complete absence of the arms or legs. Phocomelia can occur as an isolated condition or as part of a syndrome and has been notably associated with the use of the drug thalidomide during pregnancy, which was prescribed in the late 1950s and early 1960s for morning sickness. Genetic factors can also play a role in limb malformations, as seen in disorders like Holt-Oram syndrome or Roberts syndrome. Each of these conditions involves specific genetic mutations that disrupt normal limb development.

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