MCID: BRN129
MIFTS: 24

Branchial Cleft Anomalies

Categories: Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Branchial Cleft Anomalies

MalaCards integrated aliases for Branchial Cleft Anomalies:

Name: Branchial Cleft Anomalies 56
Second Branchial Cleft Cyst 58 71
Second Branchial Cleft Anomaly 58
Second Branchial Cleft Fistula 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
branchial cleft anomalies:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 113600
ICD10 via Orphanet 33 Q18.0
Orphanet 58 ORPHA141022
MedGen 41 C0079037
SNOMED-CT via HPO 68 263681008 298390003 40052002
UMLS 71 C3874315

Summaries for Branchial Cleft Anomalies

MalaCards based summary : Branchial Cleft Anomalies, also known as second branchial cleft cyst, is related to first branchial cleft anomaly and fourth branchial cleft anomaly. An important gene associated with Branchial Cleft Anomalies is WAC (WW Domain Containing Adaptor With Coiled-Coil). Affiliated tissues include thyroid, eye and salivary gland, and related phenotype is abnormality of the neck.

More information from OMIM: 113600

Related Diseases for Branchial Cleft Anomalies

Graphical network of the top 20 diseases related to Branchial Cleft Anomalies:



Diseases related to Branchial Cleft Anomalies

Symptoms & Phenotypes for Branchial Cleft Anomalies

Human phenotypes related to Branchial Cleft Anomalies:

31 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 abnormality of the neck 31 HP:0000464

Symptoms via clinical synopsis from OMIM:

56
Neck:
cysts, sinuses or fistulas

Clinical features from OMIM:

113600

Drugs & Therapeutics for Branchial Cleft Anomalies

Search Clinical Trials , NIH Clinical Center for Branchial Cleft Anomalies

Genetic Tests for Branchial Cleft Anomalies

Anatomical Context for Branchial Cleft Anomalies

MalaCards organs/tissues related to Branchial Cleft Anomalies:

40
Thyroid, Eye, Salivary Gland, Bone, Lymph Node, Skin, Heart

Publications for Branchial Cleft Anomalies

Articles related to Branchial Cleft Anomalies:

(showing 184, show less)
# Title Authors PMID Year
1
Seven cases of branchial cyst and sinuses in four generations. 56
478554 1979
2
Hereditary branchial defects in a Hampshire family. 56
13773423 1961
3
Solitary cystic metastatic lymph node of occult human papillomavirus-related oropharyngeal cancer mimicking second branchial cleft cyst: A case report. 61
31689859 2019
4
Importance and Impact of Appropriate Radiology in the Management of Branchial Cleft Anomalies. 61
31742101 2019
5
Sternoclavicular sinus: Case series and literature review of a rare head and neck lesion. 61
31326735 2019
6
Unusual Presentation of a Large Multilocular Second Branchial Cleft Cyst. 61
31033768 2019
7
The utilization of selective neck dissection in the treatment of recurrent branchial cleft anomalies. 61
31415388 2019
8
Differences in management outcome for first branchial cleft anomalies: A comparison of infants and toddlers to older children. 61
31029951 2019
9
The Microbiology Characteristics of Infected Branchial Cleft Anomalies. 61
31428729 2019
10
First branchial cleft fistula (Work Type 2) with an internal opening to the Eustachian tube: Case report and review of literature. 61
31049118 2019
11
Radiologic Features of Papillary Carcinoma in the Second Branchial Cleft Cyst. 61
30961385 2019
12
Bilateral Ear Canal Cholesteatoma with Underlying Type I First Branchial Cleft Anomalies. 61
30607978 2019
13
Right-Sided Complete Third Branchial Cleft Fistula. 61
30653037 2019
14
Unusual Conditions Impairing Saliva Secretion: Developmental Anomalies of Salivary Glands. 61
31333498 2019
15
Congenital Neck Masses. 61
30396417 2018
16
Second branchial cleft anomalies in children: a literature review. 61
30251021 2018
17
Second branchial cleft cyst: about 34 cases. 61
31131870 2018
18
The "dimple swallow" sign for branchial cleft anomalies. 61
30397158 2018
19
Clinical Study of Second Branchial Cleft Anomalies. 61
29608472 2018
20
Spontaneous closure of branchial sinus of the pyriform fossa. 61
29764823 2018
21
A Case of First Branchial Cleft Fistula Presenting with an External Opening on the Root of the Helical Crus. 61
29560006 2018
22
An Effective Surgical Approach for the Management of Recurrent First Branchial Cleft Fistula with Cysts: A Case Report. 61
29092806 2017
23
Efficacy and Safety of Ethanol Ablation for Branchial Cleft Cysts. 61
28970243 2017
24
The treatment for the first branchial cleft anomalies in children. 61
28634783 2017
25
First branchial cleft anomalies in children: Experience with 30 cases. 61
28672934 2017
26
A Rare Case Report of a Child Coexistence Thyroglossal Cyst and Second Branchial Cleft Fistulae. 61
28607902 2017
27
Clinicopathological characteristics of cervical chondrocutaneous branchial remnant: a single-institutional experience. 61
31966875 2017
28
Complications in head and neck surgery. 61
27989359 2016
29
A fatal case of severe neck abscess due to a third branchial cleft fistula: morphologic and immunohistochemical analyses. 61
27628180 2016
30
Intraoperative use of fibrin glue dyed with methylene blue in surgery for branchial cleft anomalies. 61
26927898 2016
31
Avoiding surgical pitfalls during resection of a "hybrid" first and second branchial cleft cyst - A case report. 61
27368450 2016
32
Branchial cleft and pouch anomalies in childhood: a report of 50 surgical cases. 61
26403983 2016
33
Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings. 61
26661849 2016
34
Surgical Approaches to First Branchial Cleft Anomaly Excision: A Case Series. 61
27034873 2016
35
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. 61
26264232 2015
36
Second Branchial Cleft Cyst. 61
25421295 2015
37
[The application of three-dimensional CT in diagnosis of the branchial cleft cyst and fistula]. 61
26685414 2015
38
Thyroidal abscesses in third and fourth branchial anomalies: not only a paediatric diagnosis. 61
24674380 2015
39
[Interpretation of ultrasound findings in otorhinolaryngology. Salivary glands, paraganglioma, angioma, esophagus, hypopharynx, extra cranial vessels and temporomandibular joint]. 61
26062448 2015
40
Management of First Branchial Cleft Anomalies via a Cartilage-Splitting Technique. 61
25805642 2015
41
The relationship between the fistula tract and the facial nerve in type II first branchial cleft anomalies. 61
25239084 2015
42
First branchial cleft anomalies: otologic manifestations and treatment outcomes. 61
25524898 2015
43
Branchial cleft anomalies and thymic cysts. 61
25442127 2015
44
Complete second branchial cleft anomaly presenting as a fistula and a tonsillar cyst: an interesting congenital anomaly. 61
25397378 2014
45
Parathyroid adenoma in third pharyngeal pouch cyst as a rare case of primary hyperparathyroidism. 61
25245714 2014
46
First branchial cleft fistula associated with external auditory canal stenosis and middle ear cholesteatoma. 61
25320705 2014
47
Endoscope-assisted second branchial cleft cyst resection via an incision along skin line on lateral neck. 61
24292216 2014
48
Second branchial cleft fistulae: patient characteristics and surgical outcome. 61
25012195 2014
49
Second branchial cleft cyst. 61
24472359 2014
50
Fourth branchial anomaly presenting with a lateral neck mass in a neonate. 61
26023505 2014
51
Membranous band between the tympanic membrane and the external auditory canal. 61
24525023 2014
52
Duplicated facial nerve trunk with a first branchial cleft cyst. 61
23946158 2014
53
A Type I first branchial cleft cyst masquerading as a parotid tumor. 61
25298726 2014
54
A Type-II First Branchial Cleft Anomaly Presenting as a Post-Auricular Salivary Fistula: A Rare Presentation. 61
24669347 2014
55
First branchial cleft anomaly: clinical insight into its relevance in otolaryngology with pediatric considerations. 61
24533397 2014
56
[A comparison between endoscopic-assisted second branchial cleft cyst resection via retroauricular hairline approach and conventional second branchial cleft cyst resection]. 61
24616985 2013
57
Branchial cleft cyst encircling the hypoglossal nerve. 61
24963902 2013
58
Congenital drainage at the base of the neck. 61
24021452 2013
59
First branchial cleft anomalies: avoiding the misdiagnosis. 61
24427578 2013
60
[Management and classification of first branchial cleft anomalies]. 61
24073574 2013
61
Robotic resection of benign neck masses via a retroauricular approach. 61
23706127 2013
62
Cervical cystic vagal schwannoma mimicking a type 3 second branchial cleft cyst: a case report. 61
23682945 2013
63
First branchial cleft anomalies: presentation, variability and safe surgical management. 61
23192665 2013
64
A rare parapharyngeal space branchial cleft cyst. 61
23632181 2013
65
Diagnosis and treatment of branchial cleft anomalies in UKMMC: a 10-year retrospective study. 61
23053382 2013
66
Giant benign neoplasm of lateral neck. 61
23524768 2013
67
First branchial cleft malformation with duplication of external auditory canal. 61
24312740 2013
68
Branchial cleft cyst. 61
24046795 2013
69
Synovial sarcoma of the neck masquerading as a malignant second branchial cleft cyst. 61
24133608 2013
70
Radiographic imaging of human papillomavirus related carcinomas of the oropharynx. 61
22782221 2012
71
Heterotopic salivary tissue. 61
22185684 2012
72
Congenital cervical cysts, sinuses, and fistulae in pediatric surgery. 61
22595710 2012
73
Branchial cleft anomalies: accuracy of pre-operative diagnosis, clinical presentation and management. 61
22494467 2012
74
Branchio-oculo-facial syndrome presenting with concomitant thyroglossal duct cyst. 61
22276601 2012
75
An unusual presentation of presentation of a branchial cleft cyst. 61
22627457 2012
76
Endoscope-assisted versus conventional second branchial cleft cyst resection. 61
22179440 2012
77
Relation between a first branchial cleft anomaly and the facial nerve. 61
21514984 2012
78
Multiple branchial cleft anomalies in conjunction with a congenital dermal fistula of the lower extremity: first report of the Guarisco-Winters syndrome. 61
22196793 2012
79
An unusual otoscopic finding associated with a type II first branchial cleft anomaly. 61
22152758 2012
80
Duplication of the external auditory canal: two cases and a review of the literature. 61
23213587 2012
81
The presence of an embryonic opercular flap in amniotes. 61
21632625 2012
82
First branchial arch fistula: diagnostic dilemma and improvised surgical management. 61
21035911 2011
83
[Diagnosis and surgical operation for fourth branchial cleft anomalies]. 61
22303697 2011
84
Surgical technique for excision of first branchial cleft anomalies: how we do it. 61
21848550 2011
85
Branchial anomalies in children. 61
21680029 2011
86
[Double second branchial cleft anomaly]. 61
20236623 2011
87
Revisiting imaging features and the embryologic basis of third and fourth branchial anomalies. 61
20007720 2010
88
[Utilization of functional neck dissection for treatment of recurrent branchial cleft anomalies]. 61
20518286 2010
89
Novel presentation of a fourth branchial cleft anomaly in a male infant. 61
20015714 2010
90
Branchial cysts in two Amazon parrots (Amazona species). 61
20496605 2010
91
An effective surgical technique for the excision of first branchial cleft fistula: make-inside-exposed method by tract incision. 61
19387679 2010
92
Combined approach branchial sinusectomy: a new technique for excision of second branchial cleft sinus. 61
19566978 2009
93
Second branchial cleft cyst: not!! 61
19556351 2009
94
Selective pathologies of the head and neck in children: a developmental perspective. 61
19700943 2009
95
Branchial cleft cysts in adults. Diagnostic procedures and treatment in a series of 18 cases. 61
19308468 2009
96
Removal of second branchial cleft cysts using a retroauricular approach. 61
19189334 2009
97
Cystic schwannoma of the cervical plexus masquerading as a type II second branchial cleft cyst. 61
18418621 2009
98
Parapharyngeal cyst: considerations on embryology, clinical evaluation, and surgical management. 61
19098537 2008
99
[Clinical analysis of branchial cleft cyst (fistula): report of 284 cases]. 61
18989583 2008
100
Bilateral first and second branchial cleft fistulas: a case report. 61
18572788 2008
101
[First branchial cleft anomalies]. 61
18489895 2008
102
[Congenital cysts, sinuses and fistula of head and neck]. 61
18314315 2008
103
Management of second branchial cleft anomalies. 61
18273506 2008
104
Congenital neck masses in children and their embryologic and clinical features. 61
18500016 2008
105
Second branchial cleft cyst causing internal jugular vein thrombosis - A case report. 61
23120450 2007
106
Second branchial cleft cyst with "cyst-within-cyst" appearance. 61
17825746 2007
107
Presentation of first branchial cleft anomalies: the Sheffield experience. 61
17125580 2007
108
Congenital cervical cysts, sinuses and fistulae. 61
17346566 2007
109
Management of second branchial cleft abnormalities in adults. 61
17451126 2007
110
Fluoroscopic and CT fistulography of the first branchial cleft. 61
17032848 2006
111
Clinical usefulness of multidetector CT fistulography of branchial cleft fistula. 61
16919556 2006
112
[Branchial cleft anomalies: a review of 40 cases]. 61
16836073 2006
113
Unusual extension of the first branchial cleft anomaly. 61
16267682 2006
114
Ultrasound diagnosis of fourth branchial arch sinus at 22 weeks' gestation. 61
16450361 2006
115
[Surgical treatment of first branchial cleft anomaly]. 61
16419954 2005
116
Simultaneous branchial cleft and thyroid disorders may present a management challenge. 61
16173996 2005
117
Second brachial cleft cyst mimic: case report. 61
16091545 2005
118
Bilateral pharyngoceles (branchial cleft anomalies?) and endoscopic surgical considerations. 61
16134348 2005
119
First branchial cleft anomalies have relevance in otology and more. 61
15937575 2005
120
Second branchial cleft sinus presenting after adenotonsillectomy. 61
15627456 2005
121
Radiology quiz case 2. Parapharyngeal second branchial cleft cyst. 61
15381605 2004
122
Squamous cell carcinoma arising in a second branchial cleft cyst. 61
14758141 2004
123
Branchial cleft anomalies (branchial cleft cyst, cervical lympho-epithelial cyst). 61
12731607 2003
124
Anatomical variations of the facial nerve in first branchial cleft anomalies. 61
12622548 2003
125
External auditory canal duplication anomalies associated with congenital aural atresia. 61
12590853 2003
126
A case of second branchial cleft cyst with oropharyngeal presentation. 61
12172058 2002
127
Radiology quiz case 2. Second branchial cleft cyst and fistula. 61
11701084 2001
128
Duplication of the external auditory canal: a report of three cases. 61
11278028 2001
129
Management of first branchial cleft anomalies: report of two cases. 61
11178852 2001
130
The double auditory meatus--a rare first branchial cleft anomaly: clinical presentation and treatment. 61
11078072 2000
131
Imaging of cystic lesions. 61
11054966 2000
132
Third branchial cleft anomaly presenting as a retropharyngeal abscess. 61
10967390 2000
133
Branchial cleft anomalies and bronchogenic cysts are two unrelated disorders of embryogenesis. 61
10990592 2000
134
[Malformations of the first branchial cleft: a case report]. 61
11139878 2000
135
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. 61
10762556 2000
136
Imaging of congenital anomalies of the temporal bone. 61
10658154 2000
137
Branchio-oto-renal syndrome with generalized microdontia: case report. 61
10052373 1999
138
First branchial cleft anomalies: report of 12 cases. 61
9818535 1998
139
First branchial cleft anomalies: a study of 39 cases and a review of the literature. 61
9525513 1998
140
Salivary gland heterotopia in the lower neck: a report of five cases. 61
9578125 1998
141
The use of preoperative fistulography in patients with a second branchial cleft anomaly. 61
9724434 1998
142
[Mode of presentation of fistula of the first branchial cleft]. 61
9488742 1997
143
Periauricular cysts and sinuses. 61
9217124 1997
144
First branchial complex anomalies: report of 3 cases. 61
9000408 1997
145
Clinical features of first branchial cleft anomalies. 61
8827287 1996
146
First branchial cleft anomaly. 61
8818487 1996
147
Branchial cleft anomalies--a study of 20 cases. 61
8754287 1995
148
Branchial cleft cyst posterior to the carotid vessels. 61
8536566 1995
149
Branchio-oto-renal syndrome. 61
7619422 1995
150
[Congenital neck masses. Embryonic origin and diagnosis. Report of the CIREOL]. 61
7473374 1995
151
Multiple branchial cleft anomalies. 61
7548383 1995
152
Thyroglossal duct cysts and branchial cleft anomalies. 61
7987629 1994
153
[Cysts of second branchial cleft: review of 32 operated cases]. 61
7732228 1994
154
Nasopharyngeal presentation of second branchial cleft cyst. 61
8108159 1994
155
[Symptomatic malformations of the first branchial arch]. 61
7864309 1994
156
First brachial cleft sinuses: an analysis of current management strategies and treatment outcomes. 61
8158745 1993
157
Second branchial cleft anomalies presenting as pharyngeal masses. 61
8247577 1993
158
A variation of first branchial cleft anomalies. 61
15125284 1993
159
[First branchial cleft anomaly]. 61
8317064 1993
160
Branchial cleft and pouch anomalies. 61
1556487 1992
161
First branchial cleft anomalies involving the tympanic membrane and middle ear. 61
1945438 1991
162
Thyroglossal duct and second branchial cleft anomalies in adults. 61
2379476 1990
163
Branchial cleft anomalies: a five-year retrospective review. 61
2084977 1990
164
[Duplication of the auditory canal. A vestige of the 1st branchial cleft]. 61
2610795 1989
165
[Malformations of the first branchial cleft and facial nerve]. 61
3410759 1988
166
The emerging pattern of pediatric day-care surgery. 61
3656024 1987
167
Pre-auricular fistula communicating with the external auditory meatus, combined with second branchial cleft anomalies. 61
3950485 1986
168
Second branchial cleft cyst: unusual location and a new CT diagnostic sign. 61
3876754 1985
169
Branchial cleft anomalies and their mimics: computed tomographic evaluation. 61
6463255 1984
170
Clinical aspects of the branchio-oto-renal syndrome. 61
6435070 1984
171
Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia. A rare autosomal dominant congenital syndrome. 61
6476090 1984
172
First branchial cleft anomalies and the facial nerve. 61
6408579 1983
173
The relationship of the facial nerve and first branchial cleft anomalies--embryologic considerations. 61
7144402 1982
174
[First branchial cleft anomalies - report of 4 cases (author's transl)]. 61
6954253 1982
175
An unusual first branchial cleft cyst. 61
7277562 1981
176
Second branchial cleft cyst and fistula. 61
6768251 1980
177
First branchial cleft anomalies. 61
7359964 1980
178
First branchial cleft anomalies. 61
7356767 1980
179
Surgery for thyroglossal duct and branchial cleft anomalies. 61
707703 1978
180
Bilateral first branchial cleft cysts: case report and literature review. 61
596786 1977
181
First branchial cleft anomalies. 61
6051215 1967
182
Branchial cleft anomalies: a review of 87 cases treated at the Toronto General Hospital. 61
5901161 1966
183
First branchial cleft anomalies. A not-so-rare and a potentially dangerous condition. 61
13990747 1963
184
The otologist and first branchial cleft anomalies. 61
14001872 1963

Variations for Branchial Cleft Anomalies

Expression for Branchial Cleft Anomalies

Search GEO for disease gene expression data for Branchial Cleft Anomalies.

Pathways for Branchial Cleft Anomalies

GO Terms for Branchial Cleft Anomalies

Sources for Branchial Cleft Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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39 LOVD
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43 MeSH
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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71 UMLS
72 UMLS via Orphanet
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