Macrosomia

45%-65% (as high as 90%)

Defined as pre- /or postnatal overgrowth, often using a cutoff of 90th or 97th centile, depending on study

Anterior earlobe creases/ posterior helical ear pits

63%

The more common preauricular ear pits are not typically assoc w/BWS.

Prenatal polyhydramnios

53%

—

Facial nevus simplex

52%

Also referred to as nevus flammeus

Kidney anomalies

52%

—

Neonatal hypoglycemia

30%-60%

May be exacerbated by prematurity

Omphalocele

44%

—

Umbilical hernia/ diastasis recti

22%-44%

—

Hemihyperplasia

37%-65%

Also referred to as lateralized overgrowth

Nephromegaly on imaging

38%

Organomegaly may also incl hepatomegaly (37%) splenomegaly (16%).

Embryonal tumor

8%

Risk is correlated w/molecular alteration. Tumor risks vary from 2.6% to 28% .

Cardiac anomalies

13%

—

Cleft palate

3%

Adapted from and Data were collected retrospectively and potentially with significant ascertainment bias. Updated prospective and filtered data (e.g., macrosomia in the context of parental growth parameters, molecular subgroups) will need to be collected. Prenatal and perinatal.

Mosaic or chimeric genome-wide paternal uniparental isodisomy

Mosaic or chimeric genome-wide paternal uniparental isodisomy

Sporadic

See .

Simpson-Golabi-Behmel syndrome type 1

XL

Macrosomia, visceromegaly, macroglossia, kidney anomalies, risk for embryonal tumors

Variable DD, facial features (coarse features, downslanted palpebral fissures, widely spaced eyes, macrostomia, midline groove in vermilion of lower lip), cleft lip, structural conduction cardiac abnormalities, skeletal abnormalities incl polydactyly

DIS3L2

Perlman syndrome (OMIM 267000)

AR

Macrosomia, high incidence of Wilms tumor

EZH2

Weaver syndrome (See EZH2-Related Overgrowth.)

AD2

Macrosomia, umbilical hernia

Sotos syndrome

AD2

Macrosomia

Facial features (dolichocephaly, frontal bossing, downslanted palpebral fissures, pointed chin), sparse hair in frontoparietal distribution, ID, macrocephaly DNMT3A

Tatton-Brown-Rahman syndrome

AD2

Macrosomia, cardiac anomalies

Macrocephaly, obesity, ID, ASD, behavioral/psychiatric issues, distinctive facies w/prominent central incisors, joint hypermobility, scoliosis, seizures, risk of myeloid leukemia HRAS

Costello syndrome

AD2

Can be similar to BWS in neonatal period (when affected infants present w/macrosomia).

—

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 .

Development

Assessment of speech-language skills

Esp in those w/history of macroglossia Assessment of development

Genetic counseling

By genetics professionals6

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