Skip to content

Beckwith-Wiedemann syndrome

Summary of Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome is an overgrowth disorder characterized by an increased risk of childhood cancer. Patients with Beckwith-Wiedemann often present with Wilms tumor, macroglossia, organomegaly, and hemihypertrophy. The treatment medical treatment of choice includes octreotide and blood glucose maintenance. Surgical treatment may include nephrectomy or macroglossia reduction.





Population genetics
Genetic disorders
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Friedreich ataxia
Turner syndrome
Klinefelter syndrome
Prader-Willi syndrome
Angelman syndrome
Beckwith-Wiedemann syndrome
Cri du chat syndrome
Williams syndrome
Alagille syndrome (NORD)
Polycystic kidney disease
Familial adenomatous polyposis
Familial hypercholesterolemia
Hereditary spherocytosis
Huntington disease
Li-Fraumeni syndrome
Marfan syndrome
Multiple endocrine neoplasia
Myotonic dystrophy
Tuberous sclerosis
von Hippel-Lindau disease
Polycystic kidney disease
Cystic fibrosis
Friedreich ataxia
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Primary ciliary dyskinesia
Phenylketonuria (NORD)
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Wilson disease
Fragile X syndrome
Alport syndrome
X-linked agammaglobulinemia
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Lesch-Nyhan syndrome
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic disorders: Pathology review

Beckwith-Wiedemann syndrome


0 / 5 complete


1 / 1 complete
High Yield Notes
4 pages

Beckwith-Wiedemann syndrome

5 flashcards

USMLE® Step 1 style questions USMLE

1 questions

A 1-day newborn male infant is admitted into neonatal intensive care unit because of severe developmental anomalies. The baby was prematurely born to a gravida 1, para 0, mother via cesarean section following a pregnancy complicated by polyhydramnios. Upon further interrogation with the mother, she denies any hereditary disorders in the family. A physical exam shows an abdominal wall defect in which the intestines and liver are exposed (enclosed in visceral peritoneum) and an unusually large tongue.  An abdominal ultrasound shows hydronephrosis and a hyperechoic left-kidney mass.  His temperature is 36.7°C (98°F), pulse is 130/min, respirations are 30/min, blood pressure is 110/70 mmHg, weight is 5 kilograms (11 lb), and pulse oximetry on room air shows an oxygen saturation of 93%. Which of the following is the most likely diagnosis?

Memory Anchors and Partner Content
External References