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Contractures-developmental delay-Pierre Robin syndrome

MedGen UID:
1805516
Concept ID:
C5680042
Disease or Syndrome
Synonyms: 5q23 microdeletion syndrome; contractures-developmental delay-Pierre Robin syndrome; Joint contractures, developmental delay, Pierre Robin syndrome
SNOMED CT: 5q23 microdeletion syndrome (1216940001); Joint contractures, developmental delay, Pierre Robin syndrome (1216940001)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0018571
Orphanet: ORPHA436003

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate), joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices and ocular abnormalities among others. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVContractures-developmental delay-Pierre Robin syndrome

Professional guidelines

PubMed

DeFilipp Z, Ciurea SO, Cutler C, Robin M, Warlick ED, Nakamura R, Brunner AM, Dholaria B, Walker AR, Kröger N, Bejanyan N, Atallah E, Tamari R, Solh MM, Percival ME, de Lima M, Scott B, Oran B, Garcia-Manero G, Hamadani M, Carpenter P, DeZern AE
Transplant Cell Ther 2023 Feb;29(2):71-81. Epub 2022 Nov 25 doi: 10.1016/j.jtct.2022.11.014. PMID: 36436780
Trémollieres FA, Chabbert-Buffet N, Plu-Bureau G, Rousset-Jablonski C, Lecerf JM, Duclos M, Pouilles JM, Gosset A, Boutet G, Hocke C, Maris E, Hugon-Rodin J, Maitrot-Mantelet L, Robin G, André G, Hamdaoui N, Mathelin C, Lopes P, Graesslin O, Fritel X
Maturitas 2022 Sep;163:62-81. Epub 2022 Jun 9 doi: 10.1016/j.maturitas.2022.05.008. PMID: 35717745
Maertens JA, Girmenia C, Brüggemann RJ, Duarte RF, Kibbler CC, Ljungman P, Racil Z, Ribaud P, Slavin MA, Cornely OA, Peter Donnelly J, Cordonnier C; European Conference on Infections in Leukaemia (ECIL), a joint venture of the European Group for Blood and Marrow Transplantation (EBMT), the European Organization for Research and Treatment of Cancer (EORTC), the Immunocompromised Host Society (ICHS) and; European Conference on Infections in Leukaemia (ECIL), a joint venture of the European Group for Blood and Marrow Transplantation (EBMT), the European Organization for Research and Treatment of Cancer (EORTC), the Immunocompromised Host Society (ICHS) and the European LeukemiaNet (ELN)
J Antimicrob Chemother 2018 Dec 1;73(12):3221-3230. doi: 10.1093/jac/dky286. PMID: 30085172

Recent clinical studies

Etiology

Poets CF, Wiechers C, Koos B, Muzaffar AR, Gozal D
Pediatr Pulmonol 2022 Aug;57(8):1887-1896. Epub 2021 Mar 1 doi: 10.1002/ppul.25317. PMID: 33580741
Green MA, Resnick CM
Semin Fetal Neonatal Med 2021 Dec;26(6):101280. Epub 2021 Sep 20 doi: 10.1016/j.siny.2021.101280. PMID: 34561178
Schweiger C, Manica D, Kuhl G
Semin Pediatr Surg 2016 Jun;25(3):123-7. Epub 2016 Feb 18 doi: 10.1053/j.sempedsurg.2016.02.002. PMID: 27301596
Tan HL, Kheirandish-Gozal L, Abel F, Gozal D
Sleep Med Rev 2016 Jun;27:74-88. Epub 2015 Jun 6 doi: 10.1016/j.smrv.2015.05.010. PMID: 26454241Free PMC Article
Rosa RF, Guimarães VB, Beltrão LA, Trombetta JS, Lliguin KL, de Mattos VF, Zen PR
Pediatr Int 2015 Apr;57(2):e69-72. Epub 2015 Mar 25 doi: 10.1111/ped.12562. PMID: 25808856

Diagnosis

Schmetz A, Amiel J, Wieczorek D
Semin Fetal Neonatal Med 2021 Dec;26(6):101290. Epub 2021 Sep 17 doi: 10.1016/j.siny.2021.101290. PMID: 34561177
Morrison KA, Collares MV, Flores RL
Clin Plast Surg 2021 Jul;48(3):363-373. Epub 2021 May 8 doi: 10.1016/j.cps.2021.03.005. PMID: 34051891
Long HK, Osterwalder M, Welsh IC, Hansen K, Davies JOJ, Liu YE, Koska M, Adams AT, Aho R, Arora N, Ikeda K, Williams RM, Sauka-Spengler T, Porteus MH, Mohun T, Dickel DE, Swigut T, Hughes JR, Higgs DR, Visel A, Selleri L, Wysocka J
Cell Stem Cell 2020 Nov 5;27(5):765-783.e14. Epub 2020 Sep 28 doi: 10.1016/j.stem.2020.09.001. PMID: 32991838Free PMC Article
Hsieh ST, Woo AS
Clin Plast Surg 2019 Apr;46(2):249-259. Epub 2019 Feb 8 doi: 10.1016/j.cps.2018.11.010. PMID: 30851756
Schweiger C, Manica D, Kuhl G
Semin Pediatr Surg 2016 Jun;25(3):123-7. Epub 2016 Feb 18 doi: 10.1053/j.sempedsurg.2016.02.002. PMID: 27301596

Therapy

Thieblemont C, Phillips T, Ghesquieres H, Cheah CY, Clausen MR, Cunningham D, Do YR, Feldman T, Gasiorowski R, Jurczak W, Kim TM, Lewis DJ, van der Poel M, Poon ML, Cota Stirner M, Kilavuz N, Chiu C, Chen M, Sacchi M, Elliott B, Ahmadi T, Hutchings M, Lugtenburg PJ
J Clin Oncol 2023 Apr 20;41(12):2238-2247. Epub 2022 Dec 22 doi: 10.1200/JCO.22.01725. PMID: 36548927Free PMC Article
Geyer CE Jr, Garber JE, Gelber RD, Yothers G, Taboada M, Ross L, Rastogi P, Cui K, Arahmani A, Aktan G, Armstrong AC, Arnedos M, Balmaña J, Bergh J, Bliss J, Delaloge S, Domchek SM, Eisen A, Elsafy F, Fein LE, Fielding A, Ford JM, Friedman S, Gelmon KA, Gianni L, Gnant M, Hollingsworth SJ, Im SA, Jager A, Jóhannsson ÓÞ, Lakhani SR, Janni W, Linderholm B, Liu TW, Loman N, Korde L, Loibl S, Lucas PC, Marmé F, Martinez de Dueñas E, McConnell R, Phillips KA, Piccart M, Rossi G, Schmutzler R, Senkus E, Shao Z, Sharma P, Singer CF, Španić T, Stickeler E, Toi M, Traina TA, Viale G, Zoppoli G, Park YH, Yerushalmi R, Yang H, Pang D, Jung KH, Mailliez A, Fan Z, Tennevet I, Zhang J, Nagy T, Sonke GS, Sun Q, Parton M, Colleoni MA, Schmidt M, Brufsky AM, Razaq W, Kaufman B, Cameron D, Campbell C, Tutt ANJ; OlympiA Clinical Trial Steering Committee and Investigators
Ann Oncol 2022 Dec;33(12):1250-1268. Epub 2022 Oct 10 doi: 10.1016/j.annonc.2022.09.159. PMID: 36228963Free PMC Article
Paudel R, Trinkle CA, Waters CM, Robinson LE, Cassity E, Sturgill JL, Broaddus R, Morris PE
Am J Med Sci 2021 Dec;362(6):537-545. Epub 2021 Sep 28 doi: 10.1016/j.amjms.2021.09.004. PMID: 34597688Free PMC Article
Maertens JA, Girmenia C, Brüggemann RJ, Duarte RF, Kibbler CC, Ljungman P, Racil Z, Ribaud P, Slavin MA, Cornely OA, Peter Donnelly J, Cordonnier C; European Conference on Infections in Leukaemia (ECIL), a joint venture of the European Group for Blood and Marrow Transplantation (EBMT), the European Organization for Research and Treatment of Cancer (EORTC), the Immunocompromised Host Society (ICHS) and; European Conference on Infections in Leukaemia (ECIL), a joint venture of the European Group for Blood and Marrow Transplantation (EBMT), the European Organization for Research and Treatment of Cancer (EORTC), the Immunocompromised Host Society (ICHS) and the European LeukemiaNet (ELN)
J Antimicrob Chemother 2018 Dec 1;73(12):3221-3230. doi: 10.1093/jac/dky286. PMID: 30085172
Guérin C, Reignier J, Richard JC, Beuret P, Gacouin A, Boulain T, Mercier E, Badet M, Mercat A, Baudin O, Clavel M, Chatellier D, Jaber S, Rosselli S, Mancebo J, Sirodot M, Hilbert G, Bengler C, Richecoeur J, Gainnier M, Bayle F, Bourdin G, Leray V, Girard R, Baboi L, Ayzac L; PROSEVA Study Group
N Engl J Med 2013 Jun 6;368(23):2159-68. Epub 2013 May 20 doi: 10.1056/NEJMoa1214103. PMID: 23688302

Prognosis

Trémollieres FA, Chabbert-Buffet N, Plu-Bureau G, Rousset-Jablonski C, Lecerf JM, Duclos M, Pouilles JM, Gosset A, Boutet G, Hocke C, Maris E, Hugon-Rodin J, Maitrot-Mantelet L, Robin G, André G, Hamdaoui N, Mathelin C, Lopes P, Graesslin O, Fritel X
Maturitas 2022 Sep;163:62-81. Epub 2022 Jun 9 doi: 10.1016/j.maturitas.2022.05.008. PMID: 35717745
COVID-ICU Group on behalf of the REVA Network and the COVID-ICU Investigators
Intensive Care Med 2021 Jan;47(1):60-73. Epub 2020 Oct 29 doi: 10.1007/s00134-020-06294-x. PMID: 33211135Free PMC Article
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG
Am J Med Genet A 2018 Jun;176(6):1349-1368. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38718. PMID: 29696787
Schweiger C, Manica D, Kuhl G
Semin Pediatr Surg 2016 Jun;25(3):123-7. Epub 2016 Feb 18 doi: 10.1053/j.sempedsurg.2016.02.002. PMID: 27301596
Guérin C, Reignier J, Richard JC, Beuret P, Gacouin A, Boulain T, Mercier E, Badet M, Mercat A, Baudin O, Clavel M, Chatellier D, Jaber S, Rosselli S, Mancebo J, Sirodot M, Hilbert G, Bengler C, Richecoeur J, Gainnier M, Bayle F, Bourdin G, Leray V, Girard R, Baboi L, Ayzac L; PROSEVA Study Group
N Engl J Med 2013 Jun 6;368(23):2159-68. Epub 2013 May 20 doi: 10.1056/NEJMoa1214103. PMID: 23688302

Clinical prediction guides

COVID-ICU Group on behalf of the REVA Network and the COVID-ICU Investigators
Intensive Care Med 2021 Jan;47(1):60-73. Epub 2020 Oct 29 doi: 10.1007/s00134-020-06294-x. PMID: 33211135Free PMC Article
Kato RM, Moura PP, Zechi-Ceide RM, Tonello C, Peixoto AP, Garib D
Cleft Palate Craniofac J 2021 Jan;58(1):78-83. Epub 2020 Jul 2 doi: 10.1177/1055665620937499. PMID: 32613853
Gustafsson C, Vuola P, Leikola J, Heliövaara A
Cleft Palate Craniofac J 2020 Mar;57(3):344-351. Epub 2019 Sep 17 doi: 10.1177/1055665619874991. PMID: 31530001
Rosa RF, Guimarães VB, Beltrão LA, Trombetta JS, Lliguin KL, de Mattos VF, Zen PR
Pediatr Int 2015 Apr;57(2):e69-72. Epub 2015 Mar 25 doi: 10.1111/ped.12562. PMID: 25808856
Guérin C, Reignier J, Richard JC, Beuret P, Gacouin A, Boulain T, Mercier E, Badet M, Mercat A, Baudin O, Clavel M, Chatellier D, Jaber S, Rosselli S, Mancebo J, Sirodot M, Hilbert G, Bengler C, Richecoeur J, Gainnier M, Bayle F, Bourdin G, Leray V, Girard R, Baboi L, Ayzac L; PROSEVA Study Group
N Engl J Med 2013 Jun 6;368(23):2159-68. Epub 2013 May 20 doi: 10.1056/NEJMoa1214103. PMID: 23688302

Recent systematic reviews

Yekula A, Grant C, Gupta M, Santiago-Dieppa DR, Duddleston PJ, Gonda D, Levy M
Childs Nerv Syst 2020 Jul;36(7):1367-1377. Epub 2020 May 12 doi: 10.1007/s00381-020-04642-2. PMID: 32399800Free PMC Article
Purnell CA, Janes LE, Klosowiak JL, Gosain AK
Cleft Palate Craniofac J 2019 Feb;56(2):168-176. Epub 2018 May 4 doi: 10.1177/1055665618774025. PMID: 29727222
Camacho M, Noller MW, Zaghi S, Reckley LK, Fernandez-Salvador C, Ho E, Dunn B, Chan DK
J Laryngol Otol 2017 May;131(5):378-383. Epub 2017 Feb 14 doi: 10.1017/S0022215117000056. PMID: 28193305
Manica D, Schweiger C, Sekine L, Fagondes SC, Kuhl G, Collares MV, Marostica PJ
J Craniomaxillofac Surg 2017 Feb;45(2):210-215. Epub 2016 Nov 22 doi: 10.1016/j.jcms.2016.11.008. PMID: 28011184
Wan T, Chen Y, Wang G
J Plast Reconstr Aesthet Surg 2015 Aug;68(8):1095-9. Epub 2015 Apr 29 doi: 10.1016/j.bjps.2015.04.015. PMID: 26187812

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