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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.

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Genetics

Genetics

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)
Achondroplasia
Polycystic kidney disease
Familial adenomatous polyposis
Familial hypercholesterolemia
Hereditary spherocytosis
Huntington disease
Li-Fraumeni syndrome
Marfan syndrome
Multiple endocrine neoplasia
Myotonic dystrophy
Neurofibromatosis
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
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
Hemochromatosis
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Leukodystrophy
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)
Alpha-thalassemia
Beta-thalassemia
Wilson disease
Fragile X syndrome
Alport syndrome
X-linked agammaglobulinemia
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemophilia
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

Assessments
Beckwith-Wiedemann syndrome

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High Yield Notes
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Flashcards

Beckwith-Wiedemann syndrome

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Preview

The underlying cause of Beckwith-Wiedemann syndrome is unknown, but may be related to abnormalities in chromosome arm .

Questions

USMLE® Step 1 style questions USMLE

1 questions

USMLE® Step 2 style questions USMLE

1 questions
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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?

External References