U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Robin sequence-oligodactyly syndrome

MedGen UID:
358176
Concept ID:
C1868309
Disease or Syndrome
Synonyms: Pierre Robin syndrome and oligodactyly; Robin sequence and oligodactyly
 
Monarch Initiative: MONDO:0008247
OMIM®: 172880
Orphanet: ORPHA3104

Definition

Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986. [from ORDO]

Clinical features

From HPO
Finger aplasia
MedGen UID:
1841564
Concept ID:
C5779506
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Isolated Pierre-Robin syndrome
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulties during the neonatal period (summary by Tan et al., 2013).
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRobin sequence-oligodactyly syndrome
Follow this link to review classifications for Robin sequence-oligodactyly syndrome in Orphanet.

Professional guidelines

PubMed

Bos S, Murray J, Marchetti M, Cheng GS, Bergeron A, Wolff D, Sander C, Sharma A, Badawy SM, Peric Z, Piekarska A, Pidala J, Raj K, Penack O, Kulkarni S, Beestrum M, Linke A, Rutter M, Coleman C, Tonia T, Schoemans H, Stolz D, Vos R
Eur Respir J 2024 Mar;63(3) Epub 2024 Mar 28 doi: 10.1183/13993003.01727-2023. PMID: 38485149
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
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

Weaver KN, Sullivan BR, Balow SA, Hopkin S, Chini BA, Pan BS, Stottmann RW, Bender PL, Hopkin RJ, Zhang X, Saal HM
Am J Med Genet A 2022 Jan;188(1):160-177. Epub 2021 Sep 27 doi: 10.1002/ajmg.a.62515. PMID: 34569146
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
Lennon VA, Wingerchuk DM, Kryzer TJ, Pittock SJ, Lucchinetti CF, Fujihara K, Nakashima I, Weinshenker BG
Lancet 2004 Dec 11-17;364(9451):2106-12. doi: 10.1016/S0140-6736(04)17551-X. PMID: 15589308

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
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
Ramanan P, Bryson AL, Binnicker MJ, Pritt BS, Patel R
Clin Microbiol Rev 2018 Jan;31(1) Epub 2017 Nov 15 doi: 10.1128/CMR.00024-17. PMID: 29142077Free PMC Article
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
Buchanan EP, Xue AS, Hollier LH Jr
Plast Reconstr Surg 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. PMID: 25028828

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

Nayar SK, Alcock HMF, Edwards DS
Eur J Orthop Surg Traumatol 2022 Apr;32(3):395-403. Epub 2021 May 29 doi: 10.1007/s00590-021-03008-x. PMID: 34050819Free PMC Article
Papadaki A, Nolen-Doerr E, Mantzoros CS
Nutrients 2020 Oct 30;12(11) doi: 10.3390/nu12113342. PMID: 33143083Free PMC Article
de Witte T, Bowen D, Robin M, Malcovati L, Niederwieser D, Yakoub-Agha I, Mufti GJ, Fenaux P, Sanz G, Martino R, Alessandrino EP, Onida F, Symeonidis A, Passweg J, Kobbe G, Ganser A, Platzbecker U, Finke J, van Gelder M, van de Loosdrecht AA, Ljungman P, Stauder R, Volin L, Deeg HJ, Cutler C, Saber W, Champlin R, Giralt S, Anasetti C, Kröger N
Blood 2017 Mar 30;129(13):1753-1762. Epub 2017 Jan 17 doi: 10.1182/blood-2016-06-724500. PMID: 28096091Free PMC Article
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

Sauta E, Robin M, Bersanelli M, Travaglino E, Meggendorfer M, Zhao LP, Caballero Berrocal JC, Sala C, Maggioni G, Bernardi M, Di Grazia C, Vago L, Rivoli G, Borin L, D'Amico S, Tentori CA, Ubezio M, Campagna A, Russo A, Mannina D, Lanino L, Chiusolo P, Giaccone L, Voso MT, Riva M, Oliva EN, Zampini M, Riva E, Nibourel O, Bicchieri M, Bolli N, Rambaldi A, Passamonti F, Savevski V, Santoro A, Germing U, Kordasti S, Santini V, Diez-Campelo M, Sanz G, Sole F, Kern W, Platzbecker U, Ades L, Fenaux P, Haferlach T, Castellani G, Della Porta MG
J Clin Oncol 2023 May 20;41(15):2827-2842. Epub 2023 Mar 17 doi: 10.1200/JCO.22.01784. PMID: 36930857Free PMC Article
Nayar SK, Alcock HMF, Edwards DS
Eur J Orthop Surg Traumatol 2022 Apr;32(3):395-403. Epub 2021 May 29 doi: 10.1007/s00590-021-03008-x. PMID: 34050819Free PMC Article
Papadaki A, Nolen-Doerr E, Mantzoros CS
Nutrients 2020 Oct 30;12(11) doi: 10.3390/nu12113342. PMID: 33143083Free PMC Article
de Witte T, Bowen D, Robin M, Malcovati L, Niederwieser D, Yakoub-Agha I, Mufti GJ, Fenaux P, Sanz G, Martino R, Alessandrino EP, Onida F, Symeonidis A, Passweg J, Kobbe G, Ganser A, Platzbecker U, Finke J, van Gelder M, van de Loosdrecht AA, Ljungman P, Stauder R, Volin L, Deeg HJ, Cutler C, Saber W, Champlin R, Giralt S, Anasetti C, Kröger N
Blood 2017 Mar 30;129(13):1753-1762. Epub 2017 Jan 17 doi: 10.1182/blood-2016-06-724500. PMID: 28096091Free PMC Article
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

Ager AL, de Oliveira FCL, Roy JS, Borms D, Deraedt M, Huyge M, Deschepper A, Cools AM
Braz J Phys Ther 2023 May-Jun;27(3):100514. Epub 2023 May 15 doi: 10.1016/j.bjpt.2023.100514. PMID: 37224618Free PMC Article
Tsompanaki E, Thanapirom K, Papatheodoridi M, Parikh P, Chotai de Lima Y, Tsochatzis EA
Clin Gastroenterol Hepatol 2023 Jun;21(6):1462-1474.e24. Epub 2021 Nov 25 doi: 10.1016/j.cgh.2021.11.026. PMID: 34838723
Doppen M, Kung S, Maijers I, John M, Dunphy H, Townsley H, Eathorne A, Semprini A, Braithwaite I
J Pain Symptom Manage 2022 Nov;64(5):e260-e284. Epub 2022 Jun 12 doi: 10.1016/j.jpainsymman.2022.06.002. PMID: 35705116
Nayar SK, Alcock HMF, Edwards DS
Eur J Orthop Surg Traumatol 2022 Apr;32(3):395-403. Epub 2021 May 29 doi: 10.1007/s00590-021-03008-x. PMID: 34050819Free PMC Article
Papadaki A, Nolen-Doerr E, Mantzoros CS
Nutrients 2020 Oct 30;12(11) doi: 10.3390/nu12113342. PMID: 33143083Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...