LC
MCID: LRY026
MIFTS: 34

Laryngeal Cleft (LC)

Categories: Fetal diseases, Oral diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Laryngeal Cleft

MalaCards integrated aliases for Laryngeal Cleft:

Name: Laryngeal Cleft 19 75 5
Laryngo-Tracheo-Esophageal Diastema 19 58
Laryngo-Tracheo-Esophageal Cleft 19 58
Laryngotracheoesophageal Cleft 19 58
Ltec 19 58
Lc 19 58
Anterior Submucous Laryngeal Cleft 19
Posterior Laryngeal Cleft 19
Laryngotracheal Cleft 19

Characteristics:


Inheritance:

Laryngotracheoesophageal Cleft: Autosomal dominant 58

Prevelance:

Laryngotracheoesophageal Cleft: 1-9/100000 (Europe) 58

Age Of Onset:

Laryngotracheoesophageal Cleft: Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare respiratory diseases
Developmental anomalies during embryogenesis


Summaries for Laryngeal Cleft

GARD: 19 A Laryngeal cleft is a rare malformation involving the larynx (known as the voice box) and the esophagus (known as the food pipe). Normally, when the larynx develops, it is completely separate from the esophagus so that swallowed foods travel directly through the esophagus into the stomach. A Laryngeal cleft occurs when these structures do not develop normally in an embryo, and there is an opening connecting the larynx (and sometimes trachea) and the esophagus. This enables food and liquid that is swallowed to pass through the opening to the larynx, and into the lungs. Signs and symptoms may appear in the first few months of life and may include feeding problems, trouble swallowing, failure to thrive, reflux, coughing, wheezing, stridor, aspiration, respiratory distress, and recurrent lung infections. There are several different types of Laryngeal clefts (types I through IV), which are classified based on the specific location and extent (severity) of the cleft. A cleft can occur as an isolated abnormality, as part of an underlying syndrome or condition (such as Opitz-Frias, VACTERL, Pallister-Hall, CHARGE), or with other associated malformations.

MalaCards based summary: Laryngeal Cleft, also known as laryngo-tracheo-esophageal diastema, is related to laryngotracheoesophageal cleft type 0 and opitz gbbb syndrome. An important gene associated with Laryngeal Cleft is MID1 (Midline 1). The drug Carboxymethylcellulose Sodium has been mentioned in the context of this disorder. Affiliated tissues include trachea, lung and lymph node, and related phenotypes are laryngeal cleft and recurrent respiratory infections

Orphanet: 58 A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.

Wikipedia: 75 A laryngeal cleft or laryngotracheoesophageal cleft is a rare congenital abnormality in the posterior... more...

Related Diseases for Laryngeal Cleft

Diseases related to Laryngeal Cleft via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 laryngotracheoesophageal cleft type 0 11.8
2 opitz gbbb syndrome 11.1
3 laryngotracheoesophageal cleft type 4 11.0
4 laryngotracheoesophageal cleft type 2 11.0
5 laryngotracheoesophageal cleft type 1 11.0
6 esophageal atresia 10.4
7 isolated tracheoesophageal fistula 10.3
8 situs inversus 10.2
9 dextrocardia with situs inversus 10.2
10 esophageal malformation 10.2
11 diaphragmatic hernia, congenital 10.2
12 pulmonary hypoplasia, primary 10.2
13 enterocele 10.2
14 double outlet right ventricle 10.2
15 polyhydramnios 10.2
16 swallowing disorders 10.1
17 gastroesophageal reflux 10.1
18 teebi hypertelorism syndrome 1 10.1
19 hypertelorism 10.0
20 tetralogy of fallot 10.0
21 williams-campbell syndrome 10.0
22 conotruncal heart malformations 10.0
23 cystic fibrosis 10.0
24 transposition of the great arteries, dextro-looped 10.0
25 frias syndrome 10.0
26 bronchopneumonia 10.0
27 biliary atresia 10.0
28 ventricular septal defect 10.0
29 heart septal defect 10.0
30 aspiration pneumonitis 10.0
31 pulmonary sequestration 10.0
32 cleft lip/palate 10.0
33 vater/vacterl association 10.0
34 anus, imperforate 10.0
35 aspiration pneumonia 10.0
36 respiratory failure 10.0
37 tracheobronchomalacia 10.0
38 craniofacial microsomia 10.0
39 eating disorder 10.0
40 emphysema, congenital lobar 9.9
41 pulmonary hypertension 9.9
42 48,xyyy 9.9
43 cleft palate, isolated 9.8
44 coarctation of aorta 9.8
45 pallister-hall syndrome 9.8
46 laryngomalacia 9.8
47 feingold syndrome 1 9.8
48 polydactyly, postaxial, type a1 9.8
49 renal hypodysplasia/aplasia 1 9.8
50 charge syndrome 9.8

Graphical network of the top 20 diseases related to Laryngeal Cleft:



Diseases related to Laryngeal Cleft

Symptoms & Phenotypes for Laryngeal Cleft

Human phenotypes related to Laryngeal Cleft:

58 30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 laryngeal cleft 58 30 Obligate (100%) Obligate (100%)
HP:0008751
2 recurrent respiratory infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002205
3 dyspnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002094
4 laryngomalacia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001601
5 cough 58 30 Frequent (33%) Frequent (79-30%)
HP:0012735
6 cyanosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000961
7 stridor 58 30 Frequent (33%) Frequent (79-30%)
HP:0010307
8 hoarse cry 58 30 Frequent (33%) Frequent (79-30%)
HP:0001615
9 aspiration 58 30 Frequent (33%) Frequent (79-30%)
HP:0002835
10 choking episodes 58 30 Frequent (33%) Frequent (79-30%)
HP:0030842
11 impaired oropharyngeal swallow response 58 30 Frequent (33%) Frequent (79-30%)
HP:0031162
12 neonatal respiratory distress 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002643
13 abnormality of the voice 58 Frequent (79-30%)

Drugs & Therapeutics for Laryngeal Cleft

Drugs for Laryngeal Cleft (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Carboxymethylcellulose Sodium Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pediatric Dysphagia Outcomes After Injection Laryngoplasty for Type I Laryngeal Cleft Completed NCT01507207 Phase 4
2 Comprehensive Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881

Search NIH Clinical Center for Laryngeal Cleft

Genetic Tests for Laryngeal Cleft

Anatomical Context for Laryngeal Cleft

Organs/tissues related to Laryngeal Cleft:

MalaCards : Trachea, Lung, Lymph Node, Tongue

Publications for Laryngeal Cleft

Articles related to Laryngeal Cleft:

(show top 50) (show all 351)
# Title Authors PMID Year
1
Pediatric laryngeal cleft repair with coblation: Functional comparison of a novel technique with traditional methods. 62
36371939 2022
2
Spectrum of swallowing abnormalities in children with Type I laryngeal cleft. 62
36379096 2022
3
Management of Symptomatic Grade I and II Laryngeal Cleft: Experience of a Tertiary Care Center and Review of Literature. 62
36452777 2022
4
Transfixing Anterior Laryngeal Cleft in a Malformed Stillborn at Term: Case Report. 62
36190915 2022
5
Endoscopic Repair of Laryngeal Clefts: 8 Years' Experience. 62
36213473 2022
6
Endoscopic Posterior Costochondral Graft with Cricoid Sutures for a Recurrent Type 3 Laryngeal Cleft. 62
36149911 2022
7
Type-1 Laryngeal Cleft and Pathogenic Bacterial Growth in the Lower Airway in Children. 62
35084780 2022
8
Early detection of laryngeal cleft in infants by novel technique of flexible endoscopy with sustained pharyngeal inflation. 62
35596199 2022
9
Beyond Laryngeal Clefts: Interarytenoid Injection Augmentation to Predict Success of Suture Augmentation in Children. 62
36069277 2022
10
A Validated 3D Printed Laryngeal Suturing Simulator for Endoscopic Laryngeal Cleft Repair. 62
35932231 2022
11
Combined laryngeal cleft injection laryngoplasty and salivary botulinum toxin for saliva aspiration. 62
36000049 2022
12
Postoperative respiratory adverse events in children after endoscopic laryngeal cleft repair. 62
35024957 2022
13
Type 2 laryngeal cleft associated with OpitzG/BBB syndrome. 62
35577436 2022
14
The changing face of paediatric airway endoscopic surgery: An 8-year single surgeon review. 62
35334239 2022
15
Surgical Treatment of Type III Laryngotracheoesophageal Clefts: Techniques and Outcomes. 62
34533209 2022
16
Does the History of Tracheoesophageal Fistula Repair Alter Outcomes of Laryngeal Cleft Repair? 62
35536656 2022
17
A multi-disciplinary approach to chronic cough in children. 62
35434349 2022
18
Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature. 62
35331151 2022
19
Not Just for Kids: A Rare Case of Congenital Laryngeal Cleft in an Adult. 62
32593610 2022
20
Injection laryngoplasty for laryngeal cleft type I in an 8-week-old infant. 62
35236684 2022
21
Multidisciplinary management of a neonate in respiratory distress with undiagnosed type IV laryngeal cleft. 62
34695750 2022
22
Elevated α-Ketoglutaric Acid Concentrations and a Lipid-Balanced Signature Are the Key Factors in Long-Term HIV Control. 62
35514981 2022
23
Simultaneous anterior cervical repair of type IV laryngeal cleft and tracheo-oesophageal fistula. 62
35039336 2022
24
The clinical application of flexible bronchoscopy in a neonatal intensive care unit. 62
36299699 2022
25
A Network of Anomalies Prompting VACTERL Workup in a Trisomy 21 Newborn. 62
35186552 2022
26
Clinical predictors of laryngotracheoesophageal clefts and tracheoesophageal fistulae in children with dysphagia. 62
34387933 2021
27
Laryngeal cleft: A literature review. 62
33957543 2021
28
Optimal timing and technique for endoscopic management of dysphagia in pediatric aerodigestive patients. 62
34392101 2021
29
Esophageal Atresia and Respiratory Morbidity. 62
34413249 2021
30
[Clinical diagnosis and treatments of type Ⅱ-Ⅳ congenital laryngotracheoesophageal cleft in 8 children]. 62
34666447 2021
31
Developmental basis of trachea-esophageal birth defects. 62
34023332 2021
32
Type 2 laryngeal cleft associated with OpitzG/BBB syndrome. 62
34404523 2021
33
Congenital airway anomalies. 62
34172206 2021
34
Tracheal anomalies associated with Down syndrome: A systematic review. 62
33434377 2021
35
Postoperative dysphagia immediately following pediatric endoscopic laryngeal cleft repair. 62
33454453 2021
36
Type 3/4 laryngeal cleft. 62
32788392 2021
37
[Laryngotracheoesophageal cleft: Clinical presentation and surgical treatment]. 62
33423954 2021
38
Comorbidity and long-term clinical outcome of laryngotracheal clefts types III and IV: Systematic analysis of new cases. 62
33095514 2021
39
Gross morphological, histological and scanning electron specifications of the oropharyngeal cavity of the hooded crow (Corvus cornix pallescens). 62
32794280 2021
40
Inter-rater reliability in diagnosis and treatment of type one laryngeal cleft: A blinded observational study. 62
33130466 2020
41
Multidisciplinary approach to paediatric aerodigestive disorders: A single-centre longitudinal observational study. 62
32886957 2020
42
Current management of type III and IV laryngotracheoesophageal clefts: the case for a revised cleft classification. 62
33109943 2020
43
Prenatal diagnosis of laryngo-tracheo-esophageal anomalies in fetuses with congenital diaphragmatic hernia by ultrasound evaluation of the vocal cords and fetal laryngoesophagoscopy. 62
32743809 2020
44
Prematurity and associated future paediatric airway pathology: experience from a single tertiary paediatric ENT centre. 62
32556789 2020
45
Presentation and management of type 1 laryngeal clefts: A systematic review and meta-analysis. 62
33152963 2020
46
Familial and genetic factors in laryngeal cleft: Have we learned anything? 62
32771712 2020
47
Fiber optic CO2-laser induced emphysema of the supraglottis. 62
32810687 2020
48
Purification of Lumbricus terrestris Mega-Hemoglobin for Diverse Oxygen Therapeutic Applications. 62
33313397 2020
49
A Very Rare Complication of Hyaluronic Acid Injection for Medialization Laryngoplasty: A Case With Laryngeal Abscess. 62
31005447 2020
50
Purification of Lumbricus terrestris erythrocruorin (LtEc) with anion exchange chromatography. 62
32505113 2020

Variations for Laryngeal Cleft

ClinVar genetic disease variations for Laryngeal Cleft:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 2 genes GRCh37/hg19 7q36.3(chr7:156333296-156556779) CN GAIN Uncertain Significance
523286 GRCh37: 7:156333296-156556779
GRCh38:
2 overlap with 3 genes GRCh37/hg19 7q36.3(chr7:156656444-156866708) CN GAIN Uncertain Significance
523287 GRCh37: 7:156656444-156866708
GRCh38:

Expression for Laryngeal Cleft

Search GEO for disease gene expression data for Laryngeal Cleft.

Pathways for Laryngeal Cleft

GO Terms for Laryngeal Cleft

Sources for Laryngeal Cleft

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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