Preventive Management of VATER Association

Clinical diagnosis: VATER association is an acronym that represents Vertebral defects, Anal atresia, Tracheo–
Esophageal fistula, Radial limb and Renal defects, sometimes expanded to VACTERL to denote Cardiac and
Limb defects (Quan & Smith, 1973).
Laboratory diagnosis: None available
Incidence: 1.6 per 1000 births
Genetics: Sporadic with less than 1% recurrence risk unless underlying syndromes like trisomy 18 or X-linked
VACTERL with hydrocephalus are present.
Key management issues: Detection and surgical treatment of cardiac, renal, or tracheo-esophageal anomalies;
monitoring of growth; alertness for complications such as hydrocephalus, choanal atresia, strabismus, myopia,
torticollis with cervical spine anomalies, lower spine anomalies with scoliosis, hip dislocation, urinary tract
infections, urolithiasis, tethered cord with neurogenic bladder or altered gait
Growth charts: Mapstone et al. (1986) distinguished two patient groups with VATER association, one with low-
normal and one with delayed growth; many but not all of the delayed group had cardiac disease.
Parent groups: TEF/VATER Support Network, c/o Greg and Terri Burke, 15301 Grey Fox Rd, Upper Marlboro,
MD 20772; (301) 952-6837; TOFS (Tracheo-Oesophageal Fistula Support Group), St. George's Centre, 91
Victoria Road, Netherfield, Nottingham, UK NG4 2NN, (44) (0115) 961-3092; info@TOFS.org.uk;
http://www.tofs.org.uk.
Basis for management recommendations: Complications noted below as documented by Quan & Smith (1973),
Rittler et al. (1996), Weaver et al. (1986). It should be noted that spinal dysraphism is a recently recognized
complication, and that the sensitivity of spinal sonography in detecting this anomaly is not known.

Summary of clinical concerns

Life span Stillbirth (12%), increased infant mortality (48%)
General
Growth Low birth weight, dysphagia, failure to thrive
Eye Microphthalmia, strabismus, myopia
Facial Ear Chronic otitis, preauricular tags, malformed pinna (10–39%)
Nose Choanal atresia, respiratory obstruction
Mouth Cleft lip/palate, oromotor dysfunction
Surface Neck/trunk Klippel–Feil anomaly, torticollis, inguinal hernia (23%), hernia incarceration
Cranial Large fontanelles, plagiocephaly
Skeletal Axial Vertebral anomaly (80%), rib anomaly (23%), scoliosis (32%)
Limbs Upper limb defect (35%–radial aplasia, preaxial polydactyly); lower limb defect
(36%–club foot, dislocated hip, flexion contractures)
Digestive Anorectal anomaly (70%), gastroesophageal reflux, intestinal obstruction, vomiting,
constipation
Pulmonary Tracheoesophageal fistula (28–60%), horseshoe Lung
Circulatory Cardiac anomaly (50%–VSD, ASD, PDA, tetralogy of Fallot, coarctation)
Internal Renal anomaly (24–85%–renal agenesis, renal cysts, small or horseshoe kidney);
Excretory urinary tract anomaly (48%–patent urachus, hydronephrosis, hydroureter);
obstructive uropathy, urinary tract infections
Genital anomaly (44–55%–cryptorchidism, hypospadias, micropenis, vaginal atresia)
Genital
Neural CNS Spina bifida, hydrocephalus, spinal dysraphism (tethered cord), enuresis
Motor Ambulation problems
Bold: frequency > 20%
Key references
Chestnut, R., James , H. E. & Jones, K. L. (1992). Pediatric Neurosurgery 18:144-8.
Mapstone, C. L., Weaver, D. D. & Yu, P.-L. (1986). Am J Dis Child 140:386-90.
Quan, L., Smith, D. W. 1973. Journal of Pediatrics 82:104-7.
Rittler, M., Paz, J. E. & Castilla, E. E. (1996). American Journal of Medical Genetics 63:529-36.
Weaver, D. D., Mapstone, C. L. & Yu, P.–L. (1986). Am J Dis Child 140:225-9.
VATER Association
Wilson GN, Cooley WC: Preventive Management of Children with Congenital Anomalies and Syndromes,
Cambridge University Press, 2000
Preventive Medical Checklist (0–1 yr)
Patient Birth Date / / Number
Pediatric Screen Evaluate Refer/Counsel
Neonatal Echocardiogram  Feeding/stooling  Genetic evaluation 
--__/__/__-- Renal sonogram  Sacral dimple  Cardiology, nephrology
3

Spinal x-rays  Hip click  Orthopedics
3

Newborn screen  Spinal sonogram1 Pediatric Surgery3
HB   
Neurosurgery3 

1 month Head size  Feeding/stooling  Family support4 

--__/__/__-- Urine stream  Feeding specialist
3

Inguinal hernia 

2 month Head size  Feeding/stooling  Early intervention3,5 

--__/__/__-- Growth  Hip click  Feeding specialist
3

Nutrition  Genetic counseling 
HB1  Hib 
DTaP, IPV 
RV 
4 month Head size  Feeding/stooling  Early intervention3,5 
--__/__/__-- Growth  Urine stream  Feeding specialist
3

Nutrition 
HB1  Hib 
DTaP/IPV 
RV 

6 month Head size  Inguinal hernia  Family support4 

--__/__/__-- Growth Urinalysis,  Hip click  Dietician
3

BP  Nutrition 
Hib  IPV1 
DTaP 
RV 
9 month Strabismus  Ophthalmology3 
--__/__/__-- Nutrition  Dietician
3

IPV1 

1 year Head size  Inguinal hernia  Family support4 

--__/__/__-- Growth Urinalysis,  Nutrition  Early intervention
3,5

BP  Genetics 
HB  Hib1 
Spinal sonogram1  Dietician3 
IPV1 
MMR1  Var1 
Clinical concerns for VATER Association, ages 0–1 year
Hydrocephalus T–E fistula Growth deficiency
Choanal atresia Cardiac anomaly Urinary tract anomaly
Cleft lip/palate Vertebral anomaly Cryptorchidism
Torticollis Spinal dysraphism Club foot

Guidelines for the neonatal period should be undertaken at whatever age the diagnosis is made; DTaP, acellular
DTP; IPV, inactivated poliovirus (oral polio also used); RV, rotovirus; MMR, measles-mumps-rubella; Var,
varicella; BP, blood pressure; 1alternative timing; 2by practitioner; 3as dictated by clinical findings; 4parent group,
family/sib, financial, and behavioral issues as discussed in the preface; 5including developmental monitoring and
motor/speech therapy.

Wilson GN, Cooley WC: Preventive Management of Children with Congenital Anomalies and Syndromes,
Cambridge University Press, 2000
 VATER Association
Preventive Medical Checklist (15m–6yrs)
Patient Birth Date / / Number
Pediatric Screen Evaluate Refer/Counsel
15 months Growth  Nutrition  Family support4 
--__/__/__-- Early intervention3,5 
Dietician3 
Hib1  MMR1 
DPaT, IPV 1 
Varicella1 

18 months Growth  Nutrition  Dietician3 

--__/__/__--
DPaT, IPV 1 
Varicella1 
Influenza3 

2 years Growth  Gait  Family support4 

--__/__/__-- Hearing, vision2  Strabismus  Neurosurgery
3

Urinalysis, BP  Scoliosis  Ophthalmology
3

Influenza3 
Orthopedics 3

Pneumovax3 
Dentist 

3 years Growth  Gait  Family support4 

--__/__/__-- Hearing, vision2  Strabismus  Preschool transition
3,5

Urinalysis, BP  Scoliosis  Dietician
3

Influenza3 
Inguinal hernia 
Pneumovax3 
Dentist 
4 years Hearing,vision2  Gait  Family support4 
--__/__/__-- Urinalysis, BP  Strabismus  Preschool program Cardiology
3,5 3

Scoliosis  
Influenza3 
Pneumovax3 
Dentist 

5 years Hearing,vision2  Gait  School transition 

--__/__/__-- Urinalysis, BP  Strabismus  Neurosurgery3 
Tethered cord  Scoliosis  Ophthalmology3 
DTaP,IPV1 
Inguinal hernia  Orthopedics3 
MMR1 

6 years Growth  School progress  Family support4 

--__/__/__-- Hearing, vision2  Gait  Cardiology3 
Urinalysis, BP  Genitalia  Neurosurgery3 
DTaP, IPV1 
Pediatric surgery3 
MMR1 
Dentist 
Clinical concerns for VATER Association, ages 1-6 years
Cleft lip/palate Urinary tract anomaly Growth deficiency
Vertebral anomaly Cryptorchidism, micropenis Spinal dysraphism,

Guidelines for prior ages should be undertaken at the time of diagnosis; DTaP, acellular DTP; IPV, inactivated
poliovirus (oral polio also used); MMR, measles-mumps-rubella; BP, blood pressure; 1alternative timing; 2by
practitioner; 3as dictated by clinical findings tethered cord may present with symptoms of altered gait, enuresis;
4
parent group, family/sib, financial, and behavioral issues as discussed in the preface; 5including developmental
monitoring and motor/speech therapy

Wilson GN, Cooley WC: Preventive Management of Children with Congenital Anomalies and Syndromes,
Cambridge University Press, 2000
 VATER Association
Preventive Medical Checklist (6+ yrs)
Patient Birth Date / / Number
Pediatric Screen Evaluate Refer/Counsel
8 years Growth 
--__/__/__-- Tethered cord 

Dentist 
10 years Hearing, vision2  School progress 
--__/__/__-- Urinalysis, BP  Genitalia 
Gait 
12 years Tethered cord  Puberty  Family support4 
--__/__/__-- Genitalia  Ophthalmology
3

Cardiology 3

Td1, MMR, Var 
Neurosurgery3 
CBC  Dentist 
Pediatric surgery3 
Scoliosis 
Cholesterol 
14 years Hearing, vision2  School progress 
--__/__/__-- Urinalysis, BP  Puberty 
Genitalia 
CBC  Dentist 
Gait 
Cholesterol 
Breast CA 
Testicular CA 
16 years Tethered cord  Puberty 
--__/__/__--
Td1  CBC 
Cholesterol 
Sexual5 
Dentist 
18 years Hearing, vision2  School progress  Ophthalmology3 
--__/__/__-- Urinalysis, BP  Gait  Cardiology
3

Neurosurgery3 
CBC  Sexual5 
Pediatric surgery3 
Cholesterol 
Scoliosis 
20 years6 Hearing, vision2  Gait  Family support4 Ophthalmology3 
--__/__/__-- Urinalysis, BP  Cardiology3 
Neurosurgery3 
CBC  Sexual5 
Cholesterol  
Dentist 
Clinical Concerns for VATER Association, ages 6+ years
Cleft lip/palate Cardiac anomaly Growth deficiency
Torticollis Urinary tract anomaly Spinal dysraphism
Cryptorchidism, micropenis

Guidelines for prior ages should be undertaken at the time of diagnosis; Td, tetanus/diptheria; MMR, measles-
mumps-rubella; Var, varicella; 1alternative timing; 2by practitioner; 3as dictated by clinical findings—tethered cord
may present with symptoms of altered gait, enuresis; 4parent group, family/sib, financial, and behavioral issues as
discussed in the preface; 5birth control, STD screening if sexually active; 6repeat every decade.

Wilson GN, Cooley WC: Preventive Management of Children with Congenital Anomalies and Syndromes,
Cambridge University Press, 2000