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VACTERL association, X-linked, with or without hydrocephalus(VACTERLX)

MedGen UID:
419019
Concept ID:
C2931228
Disease or Syndrome
Synonyms: VACTERL Association with Hydrocephalus, X-linked; VACTERL association with hydrocephaly, X-linked; VACTERL ASSOCIATION, X-LINKED; VACTERL-H, X-LINKED; VACTERLX; X-linked VACTERL-H syndrome
 
Genes (locations): FANCB (Xp22.2); ZIC3 (Xq26.3)
 
Monarch Initiative: MONDO:0010752
OMIM®: 314390

Definition

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). [from OMIM]

Clinical features

From HPO
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Atresia of urethra
MedGen UID:
576882
Concept ID:
C0345345
Congenital Abnormality
Congenital anomaly characterized by closure or failure to develop an opening in the urethra.
Enlarged kidney
MedGen UID:
108156
Concept ID:
C0542518
Finding
An abnormal increase in the size of the kidney.
Hand polydactyly
MedGen UID:
510636
Concept ID:
C0158733
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Absent radius
MedGen UID:
235613
Concept ID:
C1405984
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Short humerus
MedGen UID:
316907
Concept ID:
C1832117
Congenital Abnormality
Underdevelopment of the humerus.
Proximal placement of thumb
MedGen UID:
356033
Concept ID:
C1865572
Finding
Proximal mislocalization of the thumb.
Dextrocardia
MedGen UID:
4255
Concept ID:
C0011813
Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
Transposition of the great arteries
MedGen UID:
21245
Concept ID:
C0040761
Congenital Abnormality
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
Persistent left superior vena cava
MedGen UID:
75586
Concept ID:
C0265931
Congenital Abnormality
A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.
Atrioventricular canal defect
MedGen UID:
235591
Concept ID:
C1389016
Anatomical Abnormality
A defect of the atrioventricular septum of the heart.
Abnormal cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Congenital Abnormality
Any structural anomaly of the heart and blood vessels.
Isomerism
MedGen UID:
1634559
Concept ID:
C4554010
Congenital Abnormality
Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.
Anal atresia
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
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.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Abnormal vertebral morphology
MedGen UID:
371742
Concept ID:
C1834129
Anatomical Abnormality
An abnormality of one or more of the vertebrae.
Abnormality of the vertebral column
MedGen UID:
892426
Concept ID:
C4021789
Anatomical Abnormality
Any abnormality of the vertebral column.
Tracheoesophageal fistula
MedGen UID:
21228
Concept ID:
C0040588
Anatomical Abnormality
An abnormal connection (fistula) between the esophagus and the trachea.
Laryngeal atresia
MedGen UID:
78572
Concept ID:
C0265756
Congenital Abnormality
Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present.
Pulmonary hypoplasia
MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Absence of stomach bubble on fetal sonography
MedGen UID:
869203
Concept ID:
C4023625
Finding
By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.

Professional guidelines

PubMed

Hochstetler A, Raskin J, Blazer-Yost BL
Eur J Med Res 2022 Sep 1;27(1):168. doi: 10.1186/s40001-022-00798-6. PMID: 36050779Free PMC Article
Hoover-Fong J, Scott CI, Jones MC; COMMITTEE ON GENETICS
Pediatrics 2020 Jun;145(6) doi: 10.1542/peds.2020-1010. PMID: 32457214
Chung DY, Olson DM, John S, Mohamed W, Kumar MA, Thompson BB, Rordorf GA
Curr Neurol Neurosci Rep 2019 Nov 26;19(12):94. doi: 10.1007/s11910-019-1009-9. PMID: 31773310Free PMC Article

Recent clinical studies

Etiology

Hochstetler A, Raskin J, Blazer-Yost BL
Eur J Med Res 2022 Sep 1;27(1):168. doi: 10.1186/s40001-022-00798-6. PMID: 36050779Free PMC Article
Rufus P, Moorthy RK, Joseph M, Rajshekhar V
Neurol India 2021 Nov-Dec;69(Supplement):S420-S428. doi: 10.4103/0028-3886.332264. PMID: 35102998
Blount JP, Maleknia P, Hopson BD, Rocque BG, Oakes WJ
Neurol India 2021 Nov-Dec;69(Supplement):S367-S371. doi: 10.4103/0028-3886.332247. PMID: 35102990
Society for Maternal-Fetal Medicine (SMFM);. Electronic address: pubs@smfm.org, Fox NS, Monteagudo A, Kuller JA, Craigo S, Norton ME
Am J Obstet Gynecol 2018 Jul;219(1):B2-B9. Epub 2018 Apr 26 doi: 10.1016/j.ajog.2018.04.039. PMID: 29705191
Tully HM, Dobyns WB
Eur J Med Genet 2014 Aug;57(8):359-68. Epub 2014 Jun 13 doi: 10.1016/j.ejmg.2014.06.002. PMID: 24932902Free PMC Article

Diagnosis

Hochstetler A, Raskin J, Blazer-Yost BL
Eur J Med Res 2022 Sep 1;27(1):168. doi: 10.1186/s40001-022-00798-6. PMID: 36050779Free PMC Article
Skalický P, Mládek A, Vlasák A, De Lacy P, Beneš V, Bradáč O
Neurosurg Rev 2020 Dec;43(6):1451-1464. Epub 2019 Nov 8 doi: 10.1007/s10143-019-01201-5. PMID: 31705404
Society for Maternal-Fetal Medicine (SMFM);. Electronic address: pubs@smfm.org, Fox NS, Monteagudo A, Kuller JA, Craigo S, Norton ME
Am J Obstet Gynecol 2018 Jul;219(1):B2-B9. Epub 2018 Apr 26 doi: 10.1016/j.ajog.2018.04.039. PMID: 29705191
Filis AK, Aghayev K, Vrionis FD
Cancer Control 2017 Jan;24(1):6-8. doi: 10.1177/107327481702400102. PMID: 28178707
Kahle KT, Kulkarni AV, Limbrick DD Jr, Warf BC
Lancet 2016 Feb 20;387(10020):788-99. Epub 2015 Aug 6 doi: 10.1016/S0140-6736(15)60694-8. PMID: 26256071

Therapy

Yamaki VN, Telles JPM, Yamashita RHG, Matushita H
Childs Nerv Syst 2023 Mar;39(3):743-750. Epub 2023 Jan 23 doi: 10.1007/s00381-022-05784-1. PMID: 36689000
Kumar A, Sardhara JC, Singh G, Kanjilal S, Maurya VP, Behari S
Neurol India 2021 Nov-Dec;69(Supplement):S443-S455. doi: 10.4103/0028-3886.332278. PMID: 35103001
Kestle JRW, Riva-Cambrin J
J Neurosurg Pediatr 2019 Feb 1;23(2):135-141. doi: 10.3171/2018.10.PEDS18328. PMID: 30717034
Koschnitzky JE, Keep RF, Limbrick DD Jr, McAllister JP 2nd, Morris JA, Strahle J, Yung YC
Fluids Barriers CNS 2018 Mar 27;15(1):11. doi: 10.1186/s12987-018-0096-3. PMID: 29587767Free PMC Article
Summers LE, Gutierrez CM, Walsh JW, Nadell JM
J La State Med Soc 2002 Jan-Feb;154(1):40-3. PMID: 11892883

Prognosis

Dutra M, da Silva SC, Beggiora PDS, Santos MV, Machado HR, Lopes LDS
J Pediatr (Rio J) 2023 May-Jun;99(3):228-234. Epub 2022 Dec 6 doi: 10.1016/j.jped.2022.10.008. PMID: 36493803Free PMC Article
Hochstetler A, Raskin J, Blazer-Yost BL
Eur J Med Res 2022 Sep 1;27(1):168. doi: 10.1186/s40001-022-00798-6. PMID: 36050779Free PMC Article
Cohen S, Flibotte J
Clin Perinatol 2022 Mar;49(1):15-25. Epub 2022 Jan 21 doi: 10.1016/j.clp.2021.11.002. PMID: 35209998
Rufus P, Moorthy RK, Joseph M, Rajshekhar V
Neurol India 2021 Nov-Dec;69(Supplement):S420-S428. doi: 10.4103/0028-3886.332264. PMID: 35102998
Toma AK, Tarnaris A, Kitchen ND, Watkins LD
Neurosurg Rev 2010 Apr;33(2):147-52; discussion 153. Epub 2010 Feb 23 doi: 10.1007/s10143-010-0242-0. PMID: 20177727

Clinical prediction guides

El Sammak S, Lec BM, Bou GA, Wagstaff WV, Lawson EC, Hutto SK
Mult Scler Relat Disord 2023 Nov;79:105040. Epub 2023 Sep 28 doi: 10.1016/j.msard.2023.105040. PMID: 37783195
Passos-Neto CEB, Lopes CCB, Teixeira MS, Studart Neto A, Spera RR
Arq Neuropsiquiatr 2022 May;80(5 Suppl 1):42-52. doi: 10.1590/0004-282X-ANP-2022-S118. PMID: 35976308Free PMC Article
Kumar A, Sardhara JC, Singh G, Kanjilal S, Maurya VP, Behari S
Neurol India 2021 Nov-Dec;69(Supplement):S443-S455. doi: 10.4103/0028-3886.332278. PMID: 35103001
Panigrahi MK, Kodali S, Chandrsekhar YBVK, Vooturi S
Neurol India 2021 Nov-Dec;69(Supplement):S336-S341. doi: 10.4103/0028-3886.332262. PMID: 35102985
Licata C, Cristofori L, Gambin R, Vivenza C, Turazzi S
J Neurosurg Sci 2001 Sep;45(3):141-9. PMID: 11731738

Recent systematic reviews

Yamaki VN, Telles JPM, Yamashita RHG, Matushita H
Childs Nerv Syst 2023 Mar;39(3):743-750. Epub 2023 Jan 23 doi: 10.1007/s00381-022-05784-1. PMID: 36689000
Mishra R, Konar SK, Shrivastava A, Agrawal A, Nair S
Br J Neurosurg 2023 Apr;37(2):127-136. Epub 2022 Feb 17 doi: 10.1080/02688697.2022.2039376. PMID: 35174747
Palasz J, D'Antona L, Farrell S, Elborady MA, Watkins LD, Toma AK
Neurosurg Rev 2022 Feb;45(1):365-373. Epub 2021 Aug 26 doi: 10.1007/s10143-021-01627-w. PMID: 34448080
Feng Y, Chen H
Am J Emerg Med 2021 Dec;50:748-752. Epub 2021 Sep 22 doi: 10.1016/j.ajem.2021.09.047. PMID: 34879498
Robba C, Goffi A, Geeraerts T, Cardim D, Via G, Czosnyka M, Park S, Sarwal A, Padayachy L, Rasulo F, Citerio G
Intensive Care Med 2019 Jul;45(7):913-927. Epub 2019 Apr 25 doi: 10.1007/s00134-019-05610-4. PMID: 31025061

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