Poland syndrome
MONDO:0008262
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.
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Poland syndrome
Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and/or short webbed fingers on one side of the body. There may also be short ribs, less fat, and breast and nipple abnormalities on the same side of the body. Typically, the right hand side is affected. Those affected generally have normal movement and health. The cause of Poland syndrome is unknown. One theory is that it is due to disruption of blood flow during embryonic development. It is generally not inherited, and no genes that contribute to the disorder have been identified. Diagnosis of Poland syndrome is based on its symptoms. Often, those with the syndrome remain undiagnosed, and some may not realize they have it until puberty. Treatment of Poland syndrome depends on its severity and may include surgical correction. The syndrome affects about 1 in 20,000 newborns. Males are affected twice as often as females. It is named after English surgeon Alfred Poland, who described the condition when he was a student in 1841. In many cases, patients with Poland syndrome also present with pectus excavatum, so they need to be evaluated by a professional and undergo minimally invasive chest remodeling to ensure cardiac decompression.
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.