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Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [1] [2] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined. [2]
Roberts reported a disease that was characterized by phocomelia, cleft lip, cleft palate, and a protrusion of the intermaxillary region in three siblings of an Italian couple who were first cousins, which made Roberts syndrome acquisition more likely for their children due to the disease's autosomal recessive nature. [8]
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external causes during pregnancy (thus not inherited), e.g. via amniotic band syndrome; teratogenic drugs (e.g. thalidomide, which causes phocomelia) or environmental chemicals; ionizing radiation (nuclear weapons, radioiodine, radiation therapy) infections; metabolic imbalance
This gene is located on the short arm of chromosome 8 (8p21.1). Mutations in this gene also cause Roberts/SC phocomelia syndrome. [citation needed] Juberg–Hayward syndrome is inherited in both an autosomal recessive and autosomal dominant fashion. [citation needed]
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