U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Tracheoesophageal fistula

MedGen UID:
21228
Concept ID:
C0040588
Anatomical Abnormality
Synonyms: Esophageal atresia with or without tracheoesophageal fistula; Esophageal Atresia/Tracheoesophageal Fistula
SNOMED CT: TOF - Tracheoesophageal fistula (95435007); Tracheoesophageal fistula (95435007)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0002575
Monarch Initiative: MONDO:0008586
OMIM®: 189960
Orphanet: ORPHA1199

Definition

An abnormal connection (fistula) between the esophagus and the trachea. [from HPO]

Clinical features

From HPO
Esophageal atresia
MedGen UID:
4545
Concept ID:
C0014850
Congenital Abnormality
A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.
Tracheoesophageal fistula
MedGen UID:
21228
Concept ID:
C0040588
Anatomical Abnormality
An abnormal connection (fistula) between the esophagus and the trachea.

Conditions with this feature

Tracheoesophageal fistula
MedGen UID:
21228
Concept ID:
C0040588
Anatomical Abnormality
An abnormal connection (fistula) between the esophagus and the trachea.
CHARGE association
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.
Phosphoribosylaminoimidazole carboxylase deficiency
MedGen UID:
713858
Concept ID:
C1291561
Disease or Syndrome
Phosphoribosylaminoimidazole carboxylase deficiency (PAICSD) is an autosomal recessive disorder characterized by multiple congenital anomalies and early neonatal death (Pelet et al., 2019).
Martinez-Frias syndrome
MedGen UID:
318628
Concept ID:
C1832443
Disease or Syndrome
The Martinez-Frias syndrome is characterized by pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula. There is considerable phenotypic overlap between Martinez-Frias syndrome and Mitchell-Riley syndrome (MTCHRS; 615710), the latter being characterized by neonatal diabetes in addition to the features of the Martinez-Frias syndrome, but without tracheoesophageal fistula (Smith et al., 2010).
Fanconi anemia complementation group B
MedGen UID:
336901
Concept ID:
C1845292
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Methylmalonic aciduria and homocystinuria type cblF
MedGen UID:
336373
Concept ID:
C1848578
Disease or Syndrome
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.
VACTERL association, X-linked, with or without hydrocephalus
MedGen UID:
419019
Concept ID:
C2931228
Disease or Syndrome
VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see 192350). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).
Alveolar capillary dysplasia with pulmonary venous misalignment
MedGen UID:
755478
Concept ID:
C2960310
Congenital Abnormality
Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).
Fanconi anemia complementation group D2
MedGen UID:
463627
Concept ID:
C3160738
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group L
MedGen UID:
854018
Concept ID:
C3469528
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
VATER association
MedGen UID:
902479
Concept ID:
C4225671
Disease or Syndrome
VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).
X-linked intellectual disability, van Esch type
MedGen UID:
930741
Concept ID:
C4305072
Disease or Syndrome
Van Esch-O'Driscoll syndrome (VEODS) is characterized by varying degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations (Van Esch et al., 2019).
Townes-Brocks syndrome 1
MedGen UID:
1635275
Concept ID:
C4551481
Disease or Syndrome
Townes-Brocks syndrome (TBS) is characterized by the triad of imperforate anus (84%), dysplastic ears (87%; overfolded superior helices and preauricular tags; frequently associated with sensorineural and/or conductive hearing impairment [65%]), and thumb malformations (89%; triphalangeal thumbs, duplication of the thumb [preaxial polydactyly], and rarely hypoplasia of the thumbs). Renal impairment (42%), including end-stage renal disease (ESRD), may occur with or without structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoutereral reflux). Congenital heart disease occurs in 25%. Foot malformations (52%; flat feet, overlapping toes) and genitourinary malformations (36%) are common. Intellectual disability occurs in approximately 10% of individuals. Rare features include iris coloboma, Duane anomaly, Arnold-Chiari malformation type 1, and growth retardation.
Feingold syndrome type 1
MedGen UID:
1637716
Concept ID:
C4551774
Disease or Syndrome
Feingold syndrome 1 (referred to as FS1 in this GeneReview) is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.
Delpire-McNeill syndrome
MedGen UID:
1725056
Concept ID:
C5436771
Disease or Syndrome
Delpire-McNeill syndrome (DELMNES) is a neurodevelopmental disorder with highly variable manifestations. Patients present in infancy with global developmental delay, including motor, speech, and impaired intellectual development. The most severely affected patients have hypotonia, inability to hold their head or walk, bilateral sensorineural deafness, and absent language, whereas others have delayed walking and mild to moderate intellectual disability, often with speech delay and autistic features. More variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect (summary by McNeill et al., 2020).
Vertebral, cardiac, tracheoesophageal, renal, and limb defects
MedGen UID:
1788069
Concept ID:
C5543189
Disease or Syndrome
VCTERL syndrome is characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs. Some patients also exhibit craniofacial abnormalities. Incomplete penetrance and markedly variable disease expression have been observed, including intrafamilial variability (Martin et al., 2020).
ACCES syndrome
MedGen UID:
1804308
Concept ID:
C5677019
Disease or Syndrome
Aplasia cutis congenita and ectrodactyly skeletal syndrome (ACCES) is characterized by highly variable expressivity, even within the same family. Most patients exhibit scalp defects, whereas ectrodactyly is less common; however, more variable and less obvious digital and skeletal anomalies are often present. Early growth deficiency and neurodevelopmental delay are also commonly seen (Schnur et al., 2021).

Recent clinical studies

Etiology

Alhawsawi SA, Alshamrani AS, Muhammad T
Am J Case Rep 2022 Oct 31;23:e937810. doi: 10.12659/AJCR.937810. PMID: 36310365Free PMC Article
Valero Mamani RJ, Penchyna Grub J, Blanco Rodríguez G, Teyssier Morales G, Peña García M
Cir Pediatr 2022 Jul 1;35(3):113-117. doi: 10.54847/cp.2022.03.13. PMID: 35796082
Hua K, Yang S, Tao Q, Chen K, Yang Z, Wang P, Zhang Y, Zhao Y, Gu Y, Li S, Liao J, Huang J
J Pediatr Surg 2022 Dec;57(12):806-809. Epub 2022 Mar 5 doi: 10.1016/j.jpedsurg.2022.02.023. PMID: 35365338
Keefe G, Culbreath K, Edwards EM, Morrow KA, Soll RF, Modi BP, Horbar JD, Jaksic T
J Pediatr Surg 2022 Jun;57(6):970-974. Epub 2022 Feb 14 doi: 10.1016/j.jpedsurg.2022.01.060. PMID: 35300859
Koumbourlis AC, Belessis Y, Cataletto M, Cutrera R, DeBoer E, Kazachkov M, Laberge S, Popler J, Porcaro F, Kovesi T
Pediatr Pulmonol 2020 Oct;55(10):2713-2729. Epub 2020 Aug 7 doi: 10.1002/ppul.24982. PMID: 32716120

Diagnosis

Alhawsawi SA, Alshamrani AS, Muhammad T
Am J Case Rep 2022 Oct 31;23:e937810. doi: 10.12659/AJCR.937810. PMID: 36310365Free PMC Article
Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, Tørring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA
Am J Med Genet A 2022 Dec;188(12):3492-3504. Epub 2022 Sep 22 doi: 10.1002/ajmg.a.62976. PMID: 36135330Free PMC Article
Rathod D, Sharma A, Bd V, Chhabra D, Meshram T, Kumari K, Rathod K
Paediatr Anaesth 2022 Oct;32(10):1169-1171. Epub 2022 Jul 13 doi: 10.1111/pan.14523. PMID: 35796318
Nakazawa S, Yajima T, Numajiri K, Kawatani N, Aoki F, Shirabe K
Chest 2022 May;161(5):e255-e257. doi: 10.1016/j.chest.2021.11.037. PMID: 35526893
Hua K, Yang S, Tao Q, Chen K, Yang Z, Wang P, Zhang Y, Zhao Y, Gu Y, Li S, Liao J, Huang J
J Pediatr Surg 2022 Dec;57(12):806-809. Epub 2022 Mar 5 doi: 10.1016/j.jpedsurg.2022.02.023. PMID: 35365338

Therapy

Alhawsawi SA, Alshamrani AS, Muhammad T
Am J Case Rep 2022 Oct 31;23:e937810. doi: 10.12659/AJCR.937810. PMID: 36310365Free PMC Article
Amore D, Casazza D, Rispoli M, Cesaro C, Muto E, Imitazione P, Curcio C
Ann Thorac Cardiovasc Surg 2022 Dec 20;28(6):377-380. Epub 2022 Sep 3 doi: 10.5761/atcs.nm.22-00077. PMID: 36058880Free PMC Article
Chou PR, Kao CN, Liu YW
Medicina (Kaunas) 2022 Jun 23;58(7) doi: 10.3390/medicina58070843. PMID: 35888562Free PMC Article
Hua K, Yang S, Tao Q, Chen K, Yang Z, Wang P, Zhang Y, Zhao Y, Gu Y, Li S, Liao J, Huang J
J Pediatr Surg 2022 Dec;57(12):806-809. Epub 2022 Mar 5 doi: 10.1016/j.jpedsurg.2022.02.023. PMID: 35365338
Koumbourlis AC, Belessis Y, Cataletto M, Cutrera R, DeBoer E, Kazachkov M, Laberge S, Popler J, Porcaro F, Kovesi T
Pediatr Pulmonol 2020 Oct;55(10):2713-2729. Epub 2020 Aug 7 doi: 10.1002/ppul.24982. PMID: 32716120

Prognosis

Koivusalo A, Mutanen A, Suominen J, Pakarinen M
Eur J Pediatr Surg 2023 Feb;33(1):68-73. Epub 2022 Dec 5 doi: 10.1055/s-0042-1758154. PMID: 36470301
Brosens E, Brouwer RWW, Douben H, van Bever Y, Brooks AS, Wijnen RMH, van IJcken WFJ, Tibboel D, Rottier RJ, de Klein A
Genes (Basel) 2021 Oct 10;12(10) doi: 10.3390/genes12101595. PMID: 34680991Free PMC Article
Feng X, Thomé U, Stepan H, Lacher M, Wagner R
J Med Case Rep 2021 Jul 12;15(1):361. doi: 10.1186/s13256-021-02951-x. PMID: 34247656Free PMC Article
Kassif E, Weissbach T, Kushnir A, Shust-Barequet S, Elkan-Miller T, Mazkereth R, Weissmann-Brenner A, Achiron R, Weisz B
Ultrasound Obstet Gynecol 2021 Jul;58(1):92-98. doi: 10.1002/uog.22050. PMID: 32304613
O'Shea KM, Griffiths ML, King KL, Losty P, Jones M, Minford J, Murphy F
Pediatr Surg Int 2020 Oct;36(10):1243-1247. Epub 2020 Aug 24 doi: 10.1007/s00383-020-04732-x. PMID: 32833126

Clinical prediction guides

Koivusalo A, Mutanen A, Suominen J, Pakarinen M
Eur J Pediatr Surg 2023 Feb;33(1):68-73. Epub 2022 Dec 5 doi: 10.1055/s-0042-1758154. PMID: 36470301
Marquart JP, Bowder AN, Bence CM, St Peter SD, Gadepalli SK, Sato TT, Szabo A, Minneci PC, Hirschl RB, Rymeski BA, Downard CD, Markel TA, Deans KJ, Fallat ME, Fraser JD, Grabowski JE, Helmrath MA, Kabre RD, Kohler JE, Landman MP, Lawrence AE, Leys CM, Mak GZ, Port E, Saito J, Silverberg J, Slidell MB, Wright TN, Lal DR; Midwest Pediatric Surgery Consortium.
J Pediatr Surg 2023 Jan;58(1):27-33. Epub 2022 Sep 24 doi: 10.1016/j.jpedsurg.2022.09.015. PMID: 36283849
Valero Mamani RJ, Penchyna Grub J, Blanco Rodríguez G, Teyssier Morales G, Peña García M
Cir Pediatr 2022 Jul 1;35(3):113-117. doi: 10.54847/cp.2022.03.13. PMID: 35796082
Kassif E, Weissbach T, Kushnir A, Shust-Barequet S, Elkan-Miller T, Mazkereth R, Weissmann-Brenner A, Achiron R, Weisz B
Ultrasound Obstet Gynecol 2021 Jul;58(1):92-98. doi: 10.1002/uog.22050. PMID: 32304613
Boybeyi Türer Ö, Tanyel FC, Soyer T
Balkan Med J 2019 Dec 20;37(1):47-49. Epub 2019 Nov 19 doi: 10.4274/balkanmedj.galenos.2019.2019.8.60. PMID: 31742365Free PMC Article

Recent systematic reviews

Anand S, Singh A, Krishnan N, Yadav DK
J Pediatr Surg 2022 Aug;57(8):1554-1560. Epub 2021 Jul 8 doi: 10.1016/j.jpedsurg.2021.06.015. PMID: 34284871
Kainth D, Anand S, Singh A, Bajpai M
Pediatr Surg Int 2021 Aug;37(8):983-989. Epub 2021 Apr 27 doi: 10.1007/s00383-021-04913-2. PMID: 33907863
Sampat K, Losty PD
Pediatr Surg Int 2021 May;37(5):539-547. Epub 2021 Jan 20 doi: 10.1007/s00383-020-04853-3. PMID: 33474597Free PMC Article
Wolter NE, Kennedy AA, Rutter MJ, Matava C, Honjo O, Chiu PL, Propst EJ
Int J Pediatr Otorhinolaryngol 2020 Jun;133:109971. Epub 2020 Feb 27 doi: 10.1016/j.ijporl.2020.109971. PMID: 32179205
Way C, Wayne C, Grandpierre V, Harrison BJ, Travis N, Nasr A
Pediatr Surg Int 2019 Nov;35(11):1167-1184. Epub 2019 Jul 29 doi: 10.1007/s00383-019-04527-9. PMID: 31359222

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center