Multiple Pterygium Syndrome

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Xu, R. Multiple Pterygium Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4354 (accessed on 16 September 2026).

Xu R. Multiple Pterygium Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4354. Accessed September 16, 2026.

Xu, Rita. "Multiple Pterygium Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4354 (accessed September 16, 2026).

Xu, R. (2020, December 23). Multiple Pterygium Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4354

Xu, Rita. "Multiple Pterygium Syndrome." Encyclopedia. Web. 23 December, 2020.

Multiple Pterygium Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/multiple-pterygium-syndrome

Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.

genetic conditions

References

Cox PM, Brueton LA, Bjelogrlic P, Pomroy P, Sewry CA. Diversity ofneuromuscular pathology in lethal multiple pterygium syndrome. Pediatr DevPathol. 2003 Jan-Feb;6(1):59-68.
Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R,Robinson PN, Lochmüller H, Hübner C, Mundlos S. Escobar syndrome is a prenatalmyasthenia caused by disruption of the acetylcholine receptor fetal gammasubunit. Am J Hum Genet. 2006 Aug;79(2):303-12.
Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G,Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K. Acetylcholine receptor pathway mutations explain various fetal akinesiadeformation sequence disorders. Am J Hum Genet. 2008 Feb;82(2):464-76. doi:10.1016/j.ajhg.2007.11.006.
Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, vanBokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC,Brunner HG, Maher ER. Mutations in the embryonal subunit of the acetylcholinereceptor (CHRNG) cause lethal and Escobar variants of multiple pterygiumsyndrome. Am J Hum Genet. 2006 Aug;79(2):390-5.
Parashar SY, Anderson PJ, McLean N, Djohansjah M, David DJ. Spectrum offeatures in pterygium syndrome. Asian J Surg. 2006 Apr;29(2):104-8.
Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV,Beeson D, Maher ER. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genesin multiple pterygium syndrome/fetal akinesia patients. Am J Hum Genet. 2008Jan;82(1):222-7. doi: 10.1016/j.ajhg.2007.09.016.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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