Preventive Management of CHARGE Association

Clinical diagnosis: CHARGE is an acronym that was formulated by Pagon et al. (1981) for the association of
Coloboma, Heart disease, Atresia choanae, Retarded growth and development, Genital anomalies, and Ear
anomalies. Facial similarities among certain patients and occasional familial occurrence has caused some to
prefer the term “CHARGE syndrome”
Laboratory diagnosis: None
Incidence: 1 in 20,000
Genetics: A karyotype is often necessary to rule out chromosomal disorders, with most cases of CHARGE
association being sporadic with a low recurrence risk. Occasional familial examples (Pagon et al., 1981; Mitchell
et al., 1985) indicate higher risks for certain families.
Key management issues: Neonatal evaluation for choanal atresia, feeding problems, and cardiac defects;
ophthalmology evaluation for colobomata or strabismus, audiology for hearing deficits due to CNS or middle ear
anomalies, monitoring of feeding with alertness for tracheoesophageal fistula/esophageal atresia, omphalocele,
facial palsy, cleft lip/palate, and urogenital anomalies.
Growth charts: Blake et al. (1993) summarize growth data from 44 affected children
Parent groups: CHARGE Syndrome Foundation, 20084 Parkade Boulevard, Columbia MO, 65202-3121,(800)
442-7604; http://www.chargesyndrome.org
Basis for management recommendations: Blake et al. (1990) published recommendations for the
multidisciplinary management of CHARGE association. The head MRI scan recommended at age 6 months may
be delayed or omitted in children without neurologic problems.

Summary of clinical concerns

Learning Cognitive and learning differences (73%); severe delay (17%), speech
General problems
Growth Low birth weight (16%); failure to thrive (77%); short stature (92%)
Life cycle Increased infant mortality (24%)
Eye Oculomotor dysfunction, eye anomalies (colobomata, 89%; iris defects, 30%, fundus
Facial defects, 59%); nystagmus (26%), strabismus (32%).
Ear External ear anomaly (97%), middle ear anomaly (38%)
Nose Choanal atresia (64%), respiratory obstruction
Mouth Feeding problems (75%), cleft lip/palate (29%), dysphagia,
Surface Neck/trunk Short neck (20%)
Epidermal Dry skin, alopecia, skin rashes
Cranial Microcephaly (25%)
Skeletal Axial Hemivertebrae, scoliosis (16%)
Limbs Clinodactyly, syndactyly
Digestive Gastroesphageal reflux (37%), gastrointestinal obstruction,
TE fistula/atresia (10%), omphalocele, anal atresia
Pulmonary Respiratory problems, laryngeal anomaly (20%)
Internal CirculatoryEn Cardiac anomalies (84%)
docrine Hormonal deficiencies (hypothyroidism; growth hormone deficiency,
flat luteinizing hormone releasing hormone response, low testosterone)
RES DiGeorge anomaly (14%), immune deficiency (14%), frequent infections
Excretory Renal anomaly (30%), hydronephrosis
Genital Male genital anomaly (92%--micropenis, cryptorchidism)
CNS Brain anomalies (50%--arrhinencephaly, cerebellar dysplasia); seizures
Neural Motor Facial palsy (50%), facial asymmetry
Sensory Acoustic nerve dysfunction, nerve deafness (38%),
mixed hearing loss (30%), hearing deficits (77%)
RES, reticuloendothelial system, GI, gastrointestinal system, bold: frequency > 20%
Key references
Blake, K. D. et.al (1990). Archives of Diseases of Children 65:217-23.
Blake, K. et al. (1993). Archives of Diseases of Children 68:508-9.
Mitchell, J. A. et al. (1985). Ophthalmology and Pediatric Genetics 6:31-5.
Pagon, R.A. et al. (1981). Journal of Pediatrics 99:223-7.
Wyse, R.K.H. et al. (1993). Pediatric Cardiology 14:75-81.

Wilson GN, Cooley WC: Preventive Management of Children with Congenital Anomalies and Syndromes. Cambridge University
Press, 2000
 CHARGE Association
Preventive Medical Checklist (0–1 yrs)
Patient Birth Date / / Number
Pediatric Screen Evaluate Refer/Counsel
Neonatal Echocardiogram  Airway  Genetic evaluation 
--__/__/__-- Head sonogram  Iris/fundus  Feeding specialist Ophthalmology 
Renal sonogram  Feeds/stools  Cardiology, ENT 
Newborn screen  Urinalysis Genitalia Genetic evaluation
HB    
Thymus, WBC  Facial muscles  Endocrinology3 
Modify for DiGeorge Calcium, P  
1 month Head size  Feeding/stooling  Family support4 
--__/__/__-- Hearing/vision2  Feeding specialist3 
Audiology 
2 month Growth  Feeding/stooling  Early intervention5 
--__/__/__-- Head size  Nutrition  Developmental pediatrics 
Hearing/vision2 Genetic counseling 
HB1  Hib 
DTaP, IPV 
RV 
4 month Growth  Feeding/stooling  Early intervention5 
--__/__/__-- Hearing, vision2  Nutrition 
HB1  Hib 
DTaP/IPV 
RV 
6 month Growth  Feeding/stooling  Family support4 
--__/__/__-- Hearing/vision2  Nutrition  Developmental pediatrics 
Head MRI3  
Hib  IPV1 
DTaP 
RV 
9 month Audiology  Strabismus  Ophthalmology 
--__/__/__-- Immunity  ENT 
IPV1 
1 year Growth  Nutrition  Family support4 
--__/__/__-- Hearing/vision2  Immunity  Early intervention
5

Urinalysis  Developmental pediatrics 
HB  Hib1 
Genetics 
IPV1 
MMR1  Var1 
Clinical concerns for CHARGE Association, ages 0–1 year
Choanal atresia Cleft lip/palate Developmental disability
DiGeorge anomaly TE fistula, omphalocele Brain anomalies, seizures
Iris or fundus coloboma Laryngeal anomaly Facial palsies
Ear anomalies, hearing loss Cardiac anomaly Urogenital anomalies

Guidelines for the neonatal period should be undertaken at whatever age the diagnosis is made; if DiGeorge
anomaly suspected, avoid live vaccines; DTaP, acellular DTP; IPV, inactivated poliovirus (oral polio also used);
RV, rotovirus; MMR, measles-mumps-rubella; Var, varicella; P, phosphorus; TE, tracheo-esophageal; 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
 CHARGE Association
Preventive Medical Checklist (15m–6yrs)
Patient Birth Date / / Number
Pediatric Screen Evaluate Refer/Counsel
15 months Growth  Nutrition  Family support4 
--__/__/__-- Early intervention5 
Hib1  MMR1 
DPaT, IPV 1 
Varicella1 
18 months Growth  Nutrition 
--__/__/__--
DPaT, IPV 1 
Varicella1 
Influenza3 
2 years Growth Urinalysis,  Nutrition  Family support4 
--__/__/__-- BP  Immunity  Developmental pediatrics 
Audiology  Genetics 
Influenza3 
Ophthalmology, ENT 
Pneumovax3 
Dentist 

3 years Growth Urinalysis,  Nutrition  Family support4 

--__/__/__-- BP  Scoliosis  Preschool transition
5

Audiology  Ophthalmology 
Influenza3 
ENT 
Pneumovax3 
Dentist 
4 years Growth Audiology  Nutrition  Family support4 
--__/__/__-- Urinalysis, BP  Immunity  Preschool program Developmental
5

 pediatrics 
Influenza3 
Genetics 
Pneumovax3 
Ophthalmology, ENT3 
Dentist 
5 years Growth Audiology  Nutrition  School transition5 
--__/__/__-- Urinalysis, BP  Scoliosis 
DTaP,IPV1  
MMR1 
6 years Growth  School progress  Developmental pediatrics 
--__/__/__-- Hearing, vision2  Nutrition  Genetics 
Urinalysis, BP  Genitalia  Family support4 Ophthalmology, 
DTaP, IPV1 
Scoliosis  ENT3 
MMR1 
Dentist 
Clinical concerns for CHARGE Association, ages 1–6 years
Nystagmus, strabismus Laryngeal anomaly Developmental disability
Ear anomalies, hearing loss Cardiac anomaly Brain anomalies, seizures
Cleft lip/palate Respiratory problems Facial palsies
GE reflux, failure to thrive Urogenital anomalies Scoliosis

Guidelines for prior ages should be undertaken at the time of diagnosis; IPV, inactivated poliovirus (oral polio also
used); MMR, measles-mumps-rubella; 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
 CHARGE Association
Preventive Medical Checklist (6+ yrs)
Patient Birth Date / / Number

Pediatric Screen Evaluate Refer/Counsel

8 years Growth  Nutrition Genitalia  School options 
--__/__/__--  Developmental pediatrics 
Genetics 
Dentist  Endocrinology3 
10 years Growth  School progress 
--__/__/__-- Hearing, vision2  Nutrition 
Urinalysis, BP  Genitalia 

12 years Growth  Puberty  Family support4 

--__/__/__-- Genitalia  School options 
Developmental pediatrics 
Td1, MMR, Var 
Genetics 
CBC  Dentist 
Ophthalmology, ENT3 
Scoliosis 
Cholesterol 
14 years Growth  School progress 
--__/__/__-- Hearing, vision2  Puberty 
Urinalysis, BP Genitalia 
CBC  Dentist 
Scoliosis 
Cholesterol 
Breast CA 
Testicular CA 
16 years Puberty  Vocational planning 
--__/__/__-- Scoliosis  Developmental pediatrics 
Genetics 
Td1  CBC 
Cholesterol 
Sexual5 
Dentist 
18 years Growth  School progress  Vocational planning 
--__/__/__-- Hearing, vision2  Ophthalmology3 
Urinalysis, BP  ENT3 
CBC  Sexual5 
School progress 
Cholesterol 
Scoliosis 
20 years6 Hearing, vision2  Work, residence  Family support4 Ophthalmology3 
--__/__/__-- Urinalysis, BP  ENT3 
CBC  Sexual5  
Cholesterol 
Dentist 
Clinical concerns for CHARGE Association, ages 6+ years
Strabismus, nystagmus Cardiac anomalies Cognitive disability
Middle ear anomalies Hypothyroidism Immune deficiency
Hearing loss Urogenital anomalies Short stature
Failure to thrive Scoliosis Growth hormone deficiency
Guidelines for prior ages should be undertaken at the time of diagnosis; Td, tetanus/diptheria; 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; 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