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Multiple pterygium syndrome

MedGen UID:
1852087
Concept ID:
C5848053
Disease or Syndrome
Synonyms: multiple pterygium syndrome; pterygium syndrome; Pterygium Syndrome, Multiple
SNOMED CT: Multiple pterygium syndrome (205819008)
 
Monarch Initiative: MONDO:0017415
Orphanet: ORPHA294060

Definition

A group of rare genetic disorders characterized by the presence of joint contractures and multiple soft tissue webs (pterygia) across the neck and various joints, as well as typical facial appearance and a variety of other congenital anomalies. Both lethal (lethal and X-linked lethal multiple pterygium syndrome) and non-lethal (autosomal recessive and autosomal dominant multiple pterygium syndrome) forms occur. [from ORDO]

Term Hierarchy

Professional guidelines

PubMed

Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Chen CP
Taiwan J Obstet Gynecol 2012 Mar;51(1):12-7. doi: 10.1016/j.tjog.2012.01.004. PMID: 22482962
Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, MacDonald F, Maher ER
J Med Genet 2012 Jan;49(1):21-6. doi: 10.1136/jmedgenet-2011-100378. PMID: 22167768

Recent clinical studies

Etiology

Dahan-Oliel N, Dieterich K, Rauch F, Bardai G, Blondell TN, Gustafson AG, Hamdy R, Latypova X, Shazand K, Giampietro PF, van Bosse H
Genes (Basel) 2021 Aug 6;12(8) doi: 10.3390/genes12081220. PMID: 34440395Free PMC Article
Vogt J, Al-Saedi A, Willis T, Male A, McKie A, Kiely N, Maher ER
Clin Genet 2020 Jun;97(6):908-914. Epub 2020 Mar 4 doi: 10.1111/cge.13728. PMID: 32092148
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ
Am J Hum Genet 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004. PMID: 25957469Free PMC Article
Joo S, Rogers KJ, Donohoe M, King MM, Kumar SJ
J Pediatr Orthop 2012 Mar;32(2):190-5. doi: 10.1097/BPO.0b013e31823ab359. PMID: 22327454
Angsanuntsukh C, Oto M, Holmes L, Rogers KJ, King MM, Donohoe M, Kumar SJ
J Pediatr Orthop 2011 Jul-Aug;31(5):564-9. doi: 10.1097/BPO.0b013e31822108d0. PMID: 21654467

Diagnosis

Manohar S, Jakes A, Watt-Coote I, Khalil A
BMJ Case Rep 2024 Sep 10;17(9) doi: 10.1136/bcr-2023-257696. PMID: 39256175
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Mohtisham FS, Sallam A, Shawli A
BMJ Case Rep 2019 May 8;12(5) doi: 10.1136/bcr-2018-229045. PMID: 31068350Free PMC Article
Chen H, Chang CH, Misra RP, Peters HA, Grijalva NS, Opitz JM
Am J Med Genet 1980;7(2):91-102. doi: 10.1002/ajmg.1320070203. PMID: 7468651
Escobar V, Bixler D, Gleiser S, Weaver DD, Gibbs T
Am J Dis Child 1978 Jun;132(6):609-11. doi: 10.1001/archpedi.1978.02120310073016. PMID: 655146

Therapy

Margalit A, Sponseller PD, McCarthy RE, Pawelek JB, McCullough L, Karlin LI, Shirley ED, Schwend RM, Samdani AF, Akbarnia BA; Children’s Spine Study Group, and the Growing Spine Study Group
J Pediatr Orthop 2019 Aug;39(7):e506-e513. doi: 10.1097/BPO.0000000000001315. PMID: 30628977
Parashar SY, Anderson PJ, David DJ
Int J Paediatr Dent 2006 Jan;16(1):55-8. doi: 10.1111/j.1365-263X.2006.00660.x. PMID: 16364094

Prognosis

Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L
Genes (Basel) 2021 Dec 23;13(1) doi: 10.3390/genes13010029. PMID: 35052370Free PMC Article
Mohtisham FS, Sallam A, Shawli A
BMJ Case Rep 2019 May 8;12(5) doi: 10.1136/bcr-2018-229045. PMID: 31068350Free PMC Article
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A
Am J Med Genet A 2019 Jun;179(6):915-926. Epub 2019 Mar 14 doi: 10.1002/ajmg.a.61122. PMID: 30868735
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ
Am J Hum Genet 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004. PMID: 25957469Free PMC Article
Ramer JC, Ladda RL, Demuth WW
Am J Dis Child 1988 Jul;142(7):794-8. doi: 10.1001/archpedi.1988.02150070108039. PMID: 3289375

Clinical prediction guides

Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L
Genes (Basel) 2021 Dec 23;13(1) doi: 10.3390/genes13010029. PMID: 35052370Free PMC Article
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT
Skelet Muscle 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. PMID: 33190635Free PMC Article
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A
Am J Med Genet A 2019 Jun;179(6):915-926. Epub 2019 Mar 14 doi: 10.1002/ajmg.a.61122. PMID: 30868735
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ
Am J Hum Genet 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004. PMID: 25957469Free PMC Article

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