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Branchial cleft anomaly

MedGen UID:
36265
•Concept ID:
C0079037
•
Congenital Abnormality
Synonyms: BRANCHIAL CLEFT ANOMALIES; Branchial Cleft Remnant
SNOMED CT: Remnant of embryonic branchial cleft (362998000); Branchial cleft (362998000); Branchial cleft anomaly (362998000)
 
OMIM®: 113600

Definition

A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck. [from NCI]

Clinical features

From HPO
Abnormality of the neck
MedGen UID:
540042
•Concept ID:
C0266623
•
Congenital Abnormality
An abnormality of the neck.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBranchial cleft anomaly
Follow this link to review classifications for Branchial cleft anomaly in Orphanet.

Professional guidelines

PubMed

Management of congenital neck lesions in children.
Erikci V, Hoşgör M
J Plast Reconstr Aesthet Surg 2014 Sep;67(9):e217-22. Epub 2014 May 29 doi: 10.1016/j.bjps.2014.05.018. PMID: 24953290
Branchial cleft anomalies: accuracy of pre-operative diagnosis, clinical presentation and management.
Guldfred LA, Philipsen BB, Siim C
J Laryngol Otol 2012 Jun;126(6):598-604. Epub 2012 Apr 12 doi: 10.1017/S0022215112000473. PMID: 22494467

Recent clinical studies

Etiology

Resection of Second, Third, and Fourth Branchial Cleft Anomalies with Recurrent or Repeated Neck Infection Using the Selective Neck Dissection Technique.
Ning Y, Li C, Wang X, Zhu G, Cai Y, Jang J, Sun R, Liu D, Sheng J
ORL J Otorhinolaryngol Relat Spec 2020;82(2):59-66. Epub 2020 Feb 24 doi: 10.1159/000501893. PMID: 32092758
Sternoclavicular sinus: Case series and literature review of a rare head and neck lesion.
Luu K, Valenzuela D, Chadha NK, Moxham P
Int J Pediatr Otorhinolaryngol 2019 Oct;125:175-181. Epub 2019 Jul 15 doi: 10.1016/j.ijporl.2019.07.016. PMID: 31326735
Thyroidal abscesses in third and fourth branchial anomalies: not only a paediatric diagnosis.
Kruijff S, Sywak MS, Sidhu SB, Shun A, Novakovic D, Lee JC, Delbridge LW
ANZ J Surg 2015 Jul-Aug;85(7-8):578-81. Epub 2014 Mar 27 doi: 10.1111/ans.12576. PMID: 24674380
Branchial anomalies in children.
Bajaj Y, Ifeacho S, Tweedie D, Jephson CG, Albert DM, Cochrane LA, Wyatt ME, Jonas N, Hartley BE
Int J Pediatr Otorhinolaryngol 2011 Aug;75(8):1020-3. Epub 2011 Jun 15 doi: 10.1016/j.ijporl.2011.05.008. PMID: 21680029
Branchial cleft anomalies: a five-year retrospective review.
Kenealy JF, Torsiglieri AJ Jr, Tom LW
Trans Pa Acad Ophthalmol Otolaryngol 1990;42:1022-5. PMID: 2084977

Diagnosis

Sternoclavicular sinus: Case series and literature review of a rare head and neck lesion.
Luu K, Valenzuela D, Chadha NK, Moxham P
Int J Pediatr Otorhinolaryngol 2019 Oct;125:175-181. Epub 2019 Jul 15 doi: 10.1016/j.ijporl.2019.07.016. PMID: 31326735
Ultrasound Evaluation of Dermal Sinuses/Fistulas in Pediatric Patients.
Hosokawa T, Takahashi H, Miyasaka Y, Ohira K, Tanami Y, Sato Y, Ishimaru T, Kawashima H, Hosokawa M, Oguma E, Yamada Y
J Ultrasound Med 2019 Dec;38(12):3107-3122. Epub 2019 May 7 doi: 10.1002/jum.15016. PMID: 31063247
Sonographic diagnosis of coexisting ectopic thyroid and fourth branchial cleft cyst.
Oh JH, Chang YW, Lee EJ
J Clin Ultrasound 2018 Nov;46(9):582-584. Epub 2018 Oct 4 doi: 10.1002/jcu.22630. PMID: 30288756
Thyroidal abscesses in third and fourth branchial anomalies: not only a paediatric diagnosis.
Kruijff S, Sywak MS, Sidhu SB, Shun A, Novakovic D, Lee JC, Delbridge LW
ANZ J Surg 2015 Jul-Aug;85(7-8):578-81. Epub 2014 Mar 27 doi: 10.1111/ans.12576. PMID: 24674380
Branchial anomalies in children.
Bajaj Y, Ifeacho S, Tweedie D, Jephson CG, Albert DM, Cochrane LA, Wyatt ME, Jonas N, Hartley BE
Int J Pediatr Otorhinolaryngol 2011 Aug;75(8):1020-3. Epub 2011 Jun 15 doi: 10.1016/j.ijporl.2011.05.008. PMID: 21680029

Therapy

Resection of Second, Third, and Fourth Branchial Cleft Anomalies with Recurrent or Repeated Neck Infection Using the Selective Neck Dissection Technique.
Ning Y, Li C, Wang X, Zhu G, Cai Y, Jang J, Sun R, Liu D, Sheng J
ORL J Otorhinolaryngol Relat Spec 2020;82(2):59-66. Epub 2020 Feb 24 doi: 10.1159/000501893. PMID: 32092758
Management of congenital neck lesions in children.
Erikci V, Hoşgör M
J Plast Reconstr Aesthet Surg 2014 Sep;67(9):e217-22. Epub 2014 May 29 doi: 10.1016/j.bjps.2014.05.018. PMID: 24953290
Relation between a first branchial cleft anomaly and the facial nerve.
Guo YX, Guo CB
Br J Oral Maxillofac Surg 2012 Apr;50(3):259-63. Epub 2011 Apr 22 doi: 10.1016/j.bjoms.2011.03.002. PMID: 21514984
Third branchial cleft anomaly presenting as a retropharyngeal abscess.
Huang RY, Damrose EJ, Alavi S, Maceri DR, Shapiro NL
Int J Pediatr Otorhinolaryngol 2000 Aug 31;54(2-3):167-72. doi: 10.1016/s0165-5876(00)00355-4. PMID: 10967390

Prognosis

An unexpected cyst of the ear lobule.
Shehan JN, Levi JR
Am J Otolaryngol 2021 Jul-Aug;42(4):102976. Epub 2021 Feb 16 doi: 10.1016/j.amjoto.2021.102976. PMID: 33610922
Feasibility of same day surgery for pediatric second branchial cleft anomalies.
Pool C, Ehret C, Engle L, Zhu J, Wilson MN
Int J Pediatr Otorhinolaryngol 2020 Dec;139:110402. Epub 2020 Sep 29 doi: 10.1016/j.ijporl.2020.110402. PMID: 33017666
Management of congenital neck lesions in children.
Erikci V, Hoşgör M
J Plast Reconstr Aesthet Surg 2014 Sep;67(9):e217-22. Epub 2014 May 29 doi: 10.1016/j.bjps.2014.05.018. PMID: 24953290
Branchial cleft anomalies: accuracy of pre-operative diagnosis, clinical presentation and management.
Guldfred LA, Philipsen BB, Siim C
J Laryngol Otol 2012 Jun;126(6):598-604. Epub 2012 Apr 12 doi: 10.1017/S0022215112000473. PMID: 22494467
Branchial anomalies in children.
Bajaj Y, Ifeacho S, Tweedie D, Jephson CG, Albert DM, Cochrane LA, Wyatt ME, Jonas N, Hartley BE
Int J Pediatr Otorhinolaryngol 2011 Aug;75(8):1020-3. Epub 2011 Jun 15 doi: 10.1016/j.ijporl.2011.05.008. PMID: 21680029

Clinical prediction guides

An unexpected cyst of the ear lobule.
Shehan JN, Levi JR
Am J Otolaryngol 2021 Jul-Aug;42(4):102976. Epub 2021 Feb 16 doi: 10.1016/j.amjoto.2021.102976. PMID: 33610922
The congenital sternoclavicular sinus: a single-institution retrospective study of 88 patients.
Yang G, He T
Orphanet J Rare Dis 2021 Jan 23;16(1):46. doi: 10.1186/s13023-021-01691-x. PMID: 33485384Free PMC Article
Fourth branchial cleft anomaly: management strategy in acute presentation.
Carta F, Sionis S, Mascia L, Puxeddu R
Int J Pediatr Otorhinolaryngol 2014 Sep;78(9):1480-4. Epub 2014 Jun 20 doi: 10.1016/j.ijporl.2014.06.013. PMID: 25012196
Management of congenital neck lesions in children.
Erikci V, Hoşgör M
J Plast Reconstr Aesthet Surg 2014 Sep;67(9):e217-22. Epub 2014 May 29 doi: 10.1016/j.bjps.2014.05.018. PMID: 24953290
Branchial cleft anomalies: accuracy of pre-operative diagnosis, clinical presentation and management.
Guldfred LA, Philipsen BB, Siim C
J Laryngol Otol 2012 Jun;126(6):598-604. Epub 2012 Apr 12 doi: 10.1017/S0022215112000473. PMID: 22494467

Recent systematic reviews

Systematic Review of Endoscopic Obliteration Techniques for Managing Congenital Piriform Fossa Sinus Tracts in Children.
Lachance S, Chadha NK
Otolaryngol Head Neck Surg 2016 Feb;154(2):241-6. Epub 2015 Nov 2 doi: 10.1177/0194599815613286. PMID: 26527612

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