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Posterior pharyngeal cleft

MedGen UID:
336332
Concept ID:
C1848389
Finding
HPO: HP:0006783

Term Hierarchy

Conditions with this feature

X-linked Opitz G/BBB syndrome
MedGen UID:
424842
Concept ID:
C2936904
Disease or Syndrome
X-linked Opitz G/BBB syndrome (X-OS) is a multiple-congenital-anomaly disorder characterized by facial anomalies (hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares), genitourinary abnormalities (hypospadias, cryptorchidism, and hypoplastic/bifid scrotum), and laryngotracheoesophageal defects. Developmental delay and intellectual disability are observed in about 50% of affected males. Cleft lip and/or palate are present in approximately 50% of affected individuals. Other malformations (present in <50% of individuals) include congenital heart defects, imperforate or ectopic anus, and midline brain defects (Dandy-Walker malformation and agenesis or hypoplasia of the corpus callosum and/or cerebellar vermis). Wide clinical variability occurs even among members of the same family. Female heterozygotes usually manifest hypertelorism only.

Professional guidelines

PubMed

Khafagy AG, Kassamy H, Mohamed AA
Auris Nasus Larynx 2021 Jun;48(3):428-433. Epub 2020 Oct 13 doi: 10.1016/j.anl.2020.09.016. PMID: 33067051
Naran S, Ford M, Losee JE
Plast Reconstr Surg 2017 Jun;139(6):1343e-1355e. doi: 10.1097/PRS.0000000000003335. PMID: 28538580
Bishop A, Hong P, Bezuhly M
J Plast Reconstr Aesthet Surg 2014 Jan;67(1):1-8. Epub 2013 Sep 20 doi: 10.1016/j.bjps.2013.09.021. PMID: 24090720

Recent clinical studies

Etiology

Kobayashi S, Mizuno Y, Suzuki M, Yasumura K, Hirakawa T, Fukawa T, Yabuki Y, Satake T, Maegawa J
J Plast Reconstr Aesthet Surg 2022 Jun;75(6):e1-e6. Epub 2022 Jan 20 doi: 10.1016/j.bjps.2022.01.008. PMID: 35140042
Leclerc JE, Gilbert F, McConnell ÉM, Beaudoin E, Bouchard J, Simonyan D
Cleft Palate Craniofac J 2021 Nov;58(11):1348-1360. Epub 2021 Feb 25 doi: 10.1177/1055665620987684. PMID: 33631972
Nigh E, Rubio GA, Hillam J, Armstrong M, Debs L, Thaller SR
J Craniofac Surg 2017 Jul;28(5):1248-1254. doi: 10.1097/SCS.0000000000003702. PMID: 28582294
Naran S, Ford M, Losee JE
Plast Reconstr Surg 2017 Jun;139(6):1343e-1355e. doi: 10.1097/PRS.0000000000003335. PMID: 28538580
Monkhouse WS
Ear Nose Throat J 1990 Oct;69(10):677-83, 686-7. PMID: 2286163

Diagnosis

Jefferson ND, Willging JP
Curr Opin Otolaryngol Head Neck Surg 2021 Aug 1;29(4):283-288. doi: 10.1097/MOO.0000000000000735. PMID: 34183557
Naran S, Ford M, Losee JE
Plast Reconstr Surg 2017 Jun;139(6):1343e-1355e. doi: 10.1097/PRS.0000000000003335. PMID: 28538580
Perry JL
Semin Speech Lang 2011 May;32(2):83-92. Epub 2011 Sep 26 doi: 10.1055/s-0031-1277712. PMID: 21948636
Mirilas P
Am Surg 2011 Sep;77(9):1257-63. PMID: 21944636
Tracy TF Jr, Muratore CS
Semin Pediatr Surg 2007 Feb;16(1):3-13. doi: 10.1053/j.sempedsurg.2006.10.002. PMID: 17210478

Therapy

Denadai R, Sabbag A, Vieira PR, Raposo-Amaral CA, Buzzo CL, Raposo-Amaral CE
J Craniofac Surg 2020 Jan/Feb;31(1):41-45. doi: 10.1097/SCS.0000000000005802. PMID: 31369510
Denadai R, Raposo-Amaral CA, Sabbag A, Vieira PR, Buzzo CL, Raposo-Amaral CE
Ann Plast Surg 2019 Aug;83(2):172-179. doi: 10.1097/SAP.0000000000001930. PMID: 31295169
Wan T, Wang G, Yang Y, Chen Y, Zhang Y, Liang Y, Wu Y
J Craniofac Surg 2017 May;28(3):600-603. doi: 10.1097/SCS.0000000000003358. PMID: 28060087
Bishop A, Hong P, Bezuhly M
J Plast Reconstr Aesthet Surg 2014 Jan;67(1):1-8. Epub 2013 Sep 20 doi: 10.1016/j.bjps.2013.09.021. PMID: 24090720
Sloan GM
Cleft Palate Craniofac J 2000 Mar;37(2):112-22. doi: 10.1597/1545-1569_2000_037_0112_ppfasp_2.3.co_2. PMID: 10749049

Prognosis

Leclerc JE, Gilbert F, McConnell ÉM, Beaudoin E, Bouchard J, Simonyan D
Cleft Palate Craniofac J 2021 Nov;58(11):1348-1360. Epub 2021 Feb 25 doi: 10.1177/1055665620987684. PMID: 33631972
Nigh E, Rubio GA, Hillam J, Armstrong M, Debs L, Thaller SR
J Craniofac Surg 2017 Jul;28(5):1248-1254. doi: 10.1097/SCS.0000000000003702. PMID: 28582294
Naran S, Ford M, Losee JE
Plast Reconstr Surg 2017 Jun;139(6):1343e-1355e. doi: 10.1097/PRS.0000000000003335. PMID: 28538580
Metzler P, Low DW, Mundinger GS, Steinbacher DM
J Oral Maxillofac Surg 2014 Apr;72(4):803.e1-6. Epub 2013 Dec 6 doi: 10.1016/j.joms.2013.11.027. PMID: 24468019
Mirilas P
Am Surg 2011 Sep;77(9):1257-63. PMID: 21944636

Clinical prediction guides

Amer A, Saqr AM, Zayed AM, El-Kotb M, Elsobki A
Eur Arch Otorhinolaryngol 2022 Sep;279(9):4605-4615. Epub 2022 May 9 doi: 10.1007/s00405-022-07406-7. PMID: 35527305Free PMC Article
Kobayashi S, Mizuno Y, Suzuki M, Yasumura K, Hirakawa T, Fukawa T, Yabuki Y, Satake T, Maegawa J
J Plast Reconstr Aesthet Surg 2022 Jun;75(6):e1-e6. Epub 2022 Jan 20 doi: 10.1016/j.bjps.2022.01.008. PMID: 35140042
Leclerc JE, Gilbert F, McConnell ÉM, Beaudoin E, Bouchard J, Simonyan D
Cleft Palate Craniofac J 2021 Nov;58(11):1348-1360. Epub 2021 Feb 25 doi: 10.1177/1055665620987684. PMID: 33631972
Pupić-Bakrač J, Skitarelić N, Pupić-Bakrač A, Baraka I, Srzentić M, Novaković J, Terkeš V
Eur Arch Otorhinolaryngol 2021 Jul;278(7):2593-2601. Epub 2021 Jan 11 doi: 10.1007/s00405-020-06551-1. PMID: 33427915
Abdel-Aziz M, Talaat A, El-Tahan AR, Kamel A, Ghandour H, Abdel-Hameed A
Int J Pediatr Otorhinolaryngol 2020 Jun;133:109977. Epub 2020 Mar 4 doi: 10.1016/j.ijporl.2020.109977. PMID: 32169774

Recent systematic reviews

Camargo Y, Kellogg B, Kollara L
J Craniofac Surg 2023 Oct 1;34(7):1994-1998. Epub 2023 Jul 11 doi: 10.1097/SCS.0000000000009531. PMID: 37431935
de Blacam C, Smith S, Orr D
Cleft Palate Craniofac J 2018 Mar;55(3):405-422. Epub 2017 Dec 14 doi: 10.1177/1055665617735102. PMID: 29437504
Nigh E, Rubio GA, Hillam J, Armstrong M, Debs L, Thaller SR
J Craniofac Surg 2017 Jul;28(5):1248-1254. doi: 10.1097/SCS.0000000000003702. PMID: 28582294

Supplemental Content

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