Poland syndrome

Poland syndrome
Other namesPoland's syndrome, Poland's syndactyly, Poland sequence, Poland's anomaly, unilateral defect of pectoralis major and syndactyly of the hand[1]
Missing right breast and right pectoralis major muscle in Poland syndrome[2]
SpecialtyMedical genetics
SymptomsUnderdeveloped chest muscle and short webbed fingers on one side[3][1]
Usual onsetAt birth[1]
CausesUnknown[1]
Diagnostic methodBased on symptoms[4]
Differential diagnosisMoebius syndrome, Hanhart syndrome[4]
TreatmentSurgical correction[3]
Frequency1 in 20,000 newborns[1]

Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed fingers on one side of the body.[3][1] There may also be short ribs, less fat, and breast and nipple abnormalities on the same side of the body.[1] Typically, the right side is involved.[3] Those affected generally have normal movement and health.[1]

The cause of Poland syndrome is unknown.[1] One theory is that it is due to disruption of blood flow during embryonic development.[1] It is generally not inherited, and no genes that contribute to the disorder have been identified.[1] Diagnosis of Poland syndrome is based on its symptoms.[4] Often, those with the syndrome remain undiagnosed, and some may not realize they have it until puberty.[3]

Treatment of Poland syndrome depends on its severity and may include surgical correction.[3] The syndrome affects about 1 in 20,000 newborns, and males are affected twice as often as females.[1] It is named after English surgeon Sir Alfred Poland, who described the condition when he was a student in 1841.[4][5]

  1. ^ a b c d e f g h i j k l Reference, Genetics Home (9 October 2018). "Poland syndrome". Genetics Home Reference.
  2. ^ Lizarraga, Karlo J; De Salles, Antonio AF (20 September 2011). "Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report". Journal of Medical Case Reports. 5 (1): 469. doi:10.1186/1752-1947-5-469. PMC 3195104. PMID 21933407.
  3. ^ a b c d e f "Poland syndrome". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. 2016. Retrieved 16 October 2018.
  4. ^ a b c d "Poland Syndrome". NORD (National Organization for Rare Disorders). 2007. Retrieved 16 October 2018.
  5. ^ Weinzweig, Jeffrey (2010). Plastic Surgery Secrets Plus E-Book. Elsevier Health Sciences. p. 774. ISBN 978-0-323-08590-8.