Beckwith-Wiedemann Syndrome

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Clinical Beckwith-Wiedemann Syndrome

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Synonym

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Exophalo-macroglossia-gigantism (EMG) syndrome

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Inheritance

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Most cases are sporadic; variety of transmissions described; p57 (KIP2) gene on 11 p15.5

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Prenatal

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Ultrasound macrosomia, visceromegaly, omphalocele visualized DNA analysis in familial cases

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Incidence

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Unknown; M=F

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Age at Presentation

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Birth

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Pathogenesis

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Mutation in the p57 (KIP2) gene, a cyclin dependent kinase inhibitor gene acting as J negative regulator of cell proliferation, leads to overgrowth of organs and increased susceptibility to malignancies

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Clinical

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Skin
Capillary malformation on mid forehead, glabella, and upper eyelids extending to nose and upper lip in some cases

Mouth
Macroglossia

Ears
Linear earlobe crease, circular depressions on rim of posterior helices

Viscera
Hepatomegaly, splenomegaly, nephromegaly, pancreatomegaly, cardiornegaly Omphalocele Intestinal malrotation

Endocrine
Neonatal hypoglycemia with secondary neurologic sequelae if unrecognized

Musculoskeletal
Somatic gigantism birth weight and length greater than 90th percentile, Hemihypertrophy (33%)

Neoplasms (10%)
Wilms' tumor > hepatoblastorna > adrenal cortical carcinoma, rhabdomyosar¬coma; increased in patients with hemihypertrophy

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D/Dx

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Down syndrome ; Mucopolysaccharidoses; Congenital hypothyroidism

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Lab

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Blood glucose level
Abdominal and renal ultrasound at 3 month intervals through early childhood
Serum alpha fetoprotein levels (screen for hepatoblastorna) Monitor blood glucose in the neonate
Complete physical examination

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Management

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Referral to pediatric surgeon Referral to appropriate subspecialist as necessary

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Prognosis

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Normal intellect as long as hypoglycemia well controlled in the neonate; typically large (approximately 2 standard deviations above the mean) adults leading normal lives; may have shortened life span secondary to neoplasm