Table 7. [Beckwith-Wiedemann Syndrome: Recommended Evaluations Following Initial Diagnosis]. - GeneReviews®

System/Concern	Evaluation	Comment
Constitutional	Measurement of weight, length/height, & head circumference	To assess for macrosomia or overgrowth
Endocrinologic	Measurement of pre-feed blood glucose level in neonates	To assess for hypoglycemia ¹; consider consultation w/endocrinologist
ENT/Mouth	Assessment for macroglossia & cleft palate	Consider referral to plastic surgeon, ENT, or craniofacial team & feeding specialist if macroglossia is a concern & for those w/cleft palate.
Dental/orthodontic assessment	In older children, particularly those who have a history of macroglossia
Respiratory	Assessment of airway sufficiency	Particularly in neonates & infants; most airway issues are related to macroglossia, which may either improve over time or require treatment.
Consider sleep study	To assess for obstructive sleep apnea, which may be assoc w/macroglossia
Gastrointestinal	Assessment for abdominal wall abnormalities, incl omphalocele & umbilical hernia
Baseline abdominal ultrasound ²	To assess for organomegaly & tumors
Serum AFP level	To evaluate for hepatoblastoma (see Surveillance) ^3, 4; it is important to utilize normal ranges for BWS based on specific age categories to guide result interpretation, esp in premature & young infants. ⁵
Renal	Renal imaging can be achieved through baseline complete abdominal ultrasound (See Gastrointestinal in this table.)	To assess for kidney anomalies, nephromegaly, & Wilms tumor
If there is evidence of calcium deposits on renal ultrasound, consider urine calcium-to-creatinine ratio, CT of kidneys, & referral to nephrologist.
Musculoskeletal	Clinical eval for hemihyperplasia	To incl assessment of: Gross motor skills PT (if delay in gross motor skills) &/or orthopedic referral if leg length discrepancy >1 cm
Hearing	Audiologic eval	Assess for hearing loss in neonates or in those w/speech delay.
Cardiovascular	Clinical eval for signs/symptoms of cardiomyopathy or congenital heart defects	Comprehensive cardiac eval incl EKG & echocardiography is recommended when a cardiac abnormality is suspected clinically or if genomic alteration is detected that deletes or duplicates part of KCNQ1 (see Phenotype Correlations by Molecular Mechanism).
Development	Assessment of speech-language skills	Esp in those w/history of macroglossia
Assessment of development	If significant delay is identified, consider brain MRI to assess for malformations of posterior fossa.
Genetic counseling	By genetics professionals ⁶	To inform affected persons & their families re nature, MOI, & implications of BWS to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support, if needed.

System/Concern

Evaluation

Comment

Constitutional

Measurement of weight, length/height, & head circumference

To assess for macrosomia or overgrowth

Endocrinologic

Measurement of pre-feed blood glucose level in neonates

To assess for hypoglycemia ¹; consider consultation w/endocrinologist

ENT/Mouth

Assessment for macroglossia & cleft palate

Consider referral to plastic surgeon, ENT, or craniofacial team & feeding specialist if macroglossia is a concern & for those w/cleft palate.

Dental/orthodontic assessment

In older children, particularly those who have a history of macroglossia

Respiratory

Assessment of airway sufficiency

Particularly in neonates & infants; most airway issues are related to macroglossia, which may either improve over time or require treatment.

Consider sleep study

To assess for obstructive sleep apnea, which may be assoc w/macroglossia

Gastrointestinal

Assessment for abdominal wall abnormalities, incl omphalocele & umbilical hernia

Baseline abdominal ultrasound ²

To assess for organomegaly & tumors

Serum AFP level

To evaluate for hepatoblastoma (see Surveillance) ^3, 4; it is important to utilize normal ranges for BWS based on specific age categories to guide result interpretation, esp in premature & young infants. ⁵

Renal

Renal imaging can be achieved through baseline complete abdominal ultrasound (See Gastrointestinal in this table.)

To assess for kidney anomalies, nephromegaly, & Wilms tumor

If there is evidence of calcium deposits on renal ultrasound, consider urine calcium-to-creatinine ratio, CT of kidneys, & referral to nephrologist.

Musculoskeletal

Clinical eval for hemihyperplasia

To incl assessment of:

Gross motor skills
PT (if delay in gross motor skills) &/or orthopedic referral if leg length discrepancy >1 cm

Hearing

Audiologic eval

Assess for hearing loss in neonates or in those w/speech delay.

Cardiovascular

Clinical eval for signs/symptoms of cardiomyopathy or congenital heart defects

Comprehensive cardiac eval incl EKG & echocardiography is recommended when a cardiac abnormality is suspected clinically or if genomic alteration is detected that deletes or duplicates part of KCNQ1 (see Phenotype Correlations by Molecular Mechanism).

Development

Assessment of speech-language skills

Esp in those w/history of macroglossia

Assessment of development

If significant delay is identified, consider brain MRI to assess for malformations of posterior fossa.

Genetic counseling

By genetics professionals ⁶

To inform affected persons & their families re nature, MOI, & implications of BWS to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support, if needed.

From: Beckwith-Wiedemann Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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