VACTERL association is a useful acronym for a condition characterised by the sporadic, non-random association of specific birth defects of multiple organ systems.We present one such case which had congenital abnormalities of renal,skeletal and cardiac system

Rabah, SM

Salati, SA

English

Cognitive Sciences ePrint Archive

Case Report:
VACTERL association
Sajad Ahmad Salati, 
Assistant Consultant, Department of Plastic & Reconstructive Surgery, King Fahad Medical City, Riyadh, Saudi Arabia,
Sari M Rabah,
Consultant, Department of Plastic & Reconstructive Surgery, King Fahad Medical City, Riyadh, Saudi Arabia
Address For Correspondence:
Dr. Sajad Ahmad Salati,
Assistant consultant Surgical Specialties, 
King Fahad Medical City,
Riyadh, Saudi Arabia
E-mail: docsajad@yahoo.co.in
Citation: Salati SA, Rabah SM. VACTERL association. Online J Health Allied Scs. 2010;9(2):15
URL: http://www.ojhas.org/issue34/2010-2-15.htm
Open Access Archives: http://cogprints.org/view/subjects/OJHAS.html and http://openmed.nic.in/view/subjects/ojhas.html
Submitted: May 5, 2010; Accepted: Jul 10, 2010; Published: Jul 30, 2010
Abstract:
VACTERL association  is  a  useful  acronym for  a  condition 
characterised by the sporadic, non-random association of spe-
cific birth defects of multiple organ systems.We present one 
such case which had congenital abnormalities of renal,skeletal 
and cardiac system.
Key Words: VACTERL association, radial club hand
Introduction:
VACTERL association is a mnemonically useful acronym for 
a condition characterised by the sporadic, non-random associ-
ation  of  multiple  congenital  anomalies  (1,2).We  report  one 
such case which presented with left  radial club hand but on 
further  work-up was  found  to  have  anomalies  of  vertebrae, 
kidneys and cardiac and hence was labelled as a case of VAC-
TERL association.
Case Report:
A  four  months  old  male  child  was  brought  to  us  with 
deformity of left uper limb noticed at birth.  He was born at 
term by normal  delivery following an uneventful  pregnancy 
and there was no significant past medical or surgical history. 
He was the first child of non-consanguineous parents and there 
was  no  family  history  of  congenital  anomalies.  Physical 
examination  of  the  baby revealed deformity  of  left  forearm 
which  appeared  shorter  than  contra  lateral  side  with  radial 
deviation at the wrist (Fig.  1). All the digits  of the affected 
hand  excluding  the  thumb  were  normal;  the  thumb  was 
however rudimentary. Radiographs revealed features Type 4 
left radial club hand (Fig. 2) which included absent left radius 
with  hypoplastic  bowed  ulna  and  only  four  metacarpals 
corresponding  to  normal  fingers.  The  thumb  appeared  as 
accessory soft  tissue  density on the radial aspect  of the left 
hand.  On  further  evaluation  and  imaging  ,  abnormalities 
involving  other systems  were detected. Skeletal  survey also 
showed  a  mild  form of  vertebral  segmentation  abnormality 
with  fusion  of  the  posterior  elements  of  C2-C3  (Fig.  3), 
narrowing of the disc space and partial fusion of the bodies of 
L1-L2 (Fig 4). Chest radiogram (Fig.  5) showed features of 
cardiomegaly  (cardiothoracic  ratio  greater  than  50%)  and 
echocardiogram  revealed  moderate  perimembranous 
ventricular  septal  defect  with  right  pulmonary  vein  stenosis 
and  pulmonary  hypertension.  Ultra  sonogram  of  abdomen 
found both kidneys to be fused across the midline in keeping 
with  horseshoe  kidney  with  parenchymal  isthmus  and  no 
obvious  hydronephrotic  changes.(Fig.  6)  Hemoglobin,  total 
and  differential  leucocytes  count,  platelet  count,  and  renal 
function tests were all within normal limits in more than one 
occasion.  Chromosomal  analysis  did  not  reveal  any 
abnormality.  Due  to  simultaneous  occurrence  of  congenital 
anomalies  involving  cardiac,  skeletal  (vertebrae,  limb)  and 
renal system, the patient was labelled as a case of VACTERL 
association.  The  patient  was  planned  to  undergo  operative 
centralization of the wrist on ulna after surgical correction of 
cardiac defects by pediatric cardiac surgical team.
Fig. 1: Left radial Club hand
Fig. 2: Plain radiogram of left upper limb showing Type 4 
radial club hand and rudimentary thumb.
1
This work is licensed under a
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Online Journal of Health and Allied Sciences
Peer Reviewed, Open Access, Free Online Journal
Published Quarterly :  Mangalore, South India : ISSN 0972-5997
Volume 9, Issue 2; Apr-Jun 2010
Fig. 3: Cervical spine radiogram (lateral view) showing 
fusion of the posterior elements of C2-C3 (white arrow)
Fig. 4: Thoracolumbosacral spine radiogram (lateral view) 
showing narrowing  of  the  disc  space  and  partial  
fusion  of  the  bodies  of  L1-L2 (white arrows)
Fig. 5: Plain chest radiogram (PA view) showed features 
of cardiomegaly (cardiothoracic ratio greater than 50%)
Fig. 6: Abdominal ultrasonogram showing uncomplicated 
horseshoe  kidney  with parenchymal isthmus
Discussion:
VACTERL association is a mnemonically useful acronym for 
a condition characterised by the sporadic, non-random associ-
ation of specific birth defects in structures derived from the 
embryonic mesoderm.Each letter in VACTERL represents the 
first  letter  of one  of  the more  common  findings seen in af-
fected  cases.  VACTERL  association  was  first  reported  by 
Corcora et al. in 1975, (1) but only 1.0% of such cases present 
the full range of anomalies.(2) For getting labelled as VAC-
TERL ,there should be atleast three out of the following seven 
findings (3):
• V  -  Vertebral  anomalies: Vertebral  anomalies 
usually  consist  of  hypoplastic(small)  vertebrae or 
hemivertebra (where only one half of the bone is 
formed). About 70 percent of patients with VAC-
TERL association will have vertebral anomalies. In 
early life  these  anomalies  rarely cause  any diffi-
culties, although the presence of these defects on a 
chest x-ray may alert the physician to other defects 
associated with VACTERL. Later in life ,these ver-
tebral anomalies may put the child at risk for devel-
oping scoliosis.
• A - Anal atresia: Anal atresia or imperforate anus 
is seen in about 55 percent of patients with VAC-
TERL association.
• C - Cardiovascular anomalies: Up to three-quar-
ters of  patients with VACTERL association have 
been reported to have congenital heart disease. The 
most common heart defects seen with VACTERL 
association  are  ventricular  septal  defects,  atrial 
septal defects and Tetralogy of Fallot.  Less  com-
mon defects  are truncus arteriosus  and transposi-
tion of the great arteries. 
• T-E - Tracheoesophageal fistula: Esophageal at-
resia with tracheo-esophageal fistula (TE fistula) is 
seen  in  about  70  percent  of  patients  with  VAC-
TERL association .
• R - Renal (Kidney): Renal defects are seen in half 
the patients with malformation of one or both kid-
neys or obstructive uropathy.
• L- Limb defects: Limb defects seen in up 70 per-
cent of babies include absent or displaced thumbs, 
polydactyly,  syndactyly and forearm (includng ra-
dial aplasia) and leg defects. 
In addition, to the above mentioned features, affected children 
may also exhibit less frequent abnormalities including growth 
deficiencies and failure to gain weight and grow at the expec-
ted rate (failure to thrive). Furthermore     defects of practic-
ally every organ system have been reported in association with 
2
VACTERL  in  lower  frequency  (4)  like  facial  asymmetry 
(hemifacial  microsomia),  external  ear  malformations,  lung 
lobation defects, intestinal malrotation and genital anomalies.-
VACTERL shows some pheonotypic overlap with many other 
conditions  including   Feingold  syndrome,  CHARGE  syn-
drome,  22qll  deletion  syndrome.  Townes-Brocks  syndrome, 
Pallister-Hallsyndrome, Fanconi anemia spectrum, Goldenhar 
Syndrome,  Nager  syndrome,  caudal  regression  syndrome, 
sirenomelia,  electrodactyly-ectodermal  dysplasia  syndrome, 
Jarcho-Levin syndrome and Klippel- Fiel syndrome. Some re-
searchers have added an (S) to the VACTERL acronym to rep-
resent  a  single  umbilical  artery  instead  of  the  normal  two. 
Mental functioning and intelligence is usually unaffected; de-
velopmental delay/mental retardation should suggest an altern-
ative diagnosis. 
VACTERL is seen more frequently in infants born to diabetic 
mothers.  The  birth  prevalence  varies  from  1:3,500  to 
1.6:10,000 (3) and  is rarely seen more than once in one family 
. The reason it is called an association, rather than a syndrome 
is that while all of the birth defects are linked, it is still defin-
itely unknown which genes or sets of genes cause these birth 
defects to occur. A disruption in differentiating mesoderm in 
first 4-5 weeks has been suggested to be the basis for such a 
non-random association.(5) Besides recent research has shown 
that  VACTERL  could  be  caused  by  defective  Shh  (Sonic 
hedgehog  pathway)  signaling  during human  embryogenesis.
(6) Some reports have also suggested that the VACTERL as-
sociation may possibly occur with increased frequency in chil-
dren whose mothers have taken the cholesterol-lowering statin 
drugs in the first trimester of pregnancy. 
Prognosis  is  overall  poor  and depends upon  the  extent  and 
combination of deformities and the quality of available health-
care. If detected in utero(by sonography) before viability, ter-
mination of pregnancy can be offered. 
References:
1. Corcoran  R,  Entwistle  GD.  Letter:  polycystic 
ovarian  disease  and  oral  contraception. Lancet 
1975;21:1386–87. 
2. Khoury MJ, Cordero JF, Greenberg F, James LM, 
Erickson JD. A population study of the VACTERL 
association:  evidence  for  its  etiologic  heterogen-
eity. Pediatrics 1983;71:815–20.
3. Harjai MM, Holla RG, Kale CR. Full spectrum of 
VACTERL in new born MJAFI 2008;64:84-85  
4. Kallen K, Mastroiacovo P, Castilla EE, Robert E, 
Kallen B. VATER non-random association of con-
genital  malformations:  Study based on data  from 
four  malformation  registers.  Am  J  Med  Genet 
2001;101:26-32
5. Botto LD, Khoury MJ, Mastroiacovo P , Castilla 
EE, Moore CA, Skjaerven R et al. The spectrum of 
congenital  anomalies  of  the  VATER association: 
An  international  study.  Am  J  Med  Genet 
1997;71:08-15.
6. Arsic D, Qi BQ, Beasley SW.  Hedgehog in the hu-
man: a possible explanation for the VATER associ-
ation. J Paediatr Child Health 2002;38(2):117-21
3


A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics

Hedgehog in the human: a possible explanation for the VATER association.

Letter: polycystic ovarian disease and oral contraception. Lancet

The spectrum of congenital anomalies of the VATER association: An international study.

VATER non-random association of congenital malformations: Study based on data from four malformation registers.

VACTERL association

Sajad Ahmad Salati

Sari M Rabah

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VACTERL association

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