Beckwith-Wiedemann syndrome
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Genetic disorders
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
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Beckwith-Wiedemann syndrome
Cri du chat syndrome
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Glycogen storage disease type I
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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)
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Alport syndrome
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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
High Yield Notes
4 pages
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Summary
Beckwith-Wiedemann syndrome (BWS) is a genetic imprinting disorder characterized by body overgrowth associated with an increased risk of childhood cancer. The symptoms and severity of BWS can vary greatly from one individual to another. In some cases, the only symptom may be mild overgrowth, while in other cases, there may be multiple major birth defects such as abdominal wall defects. Common symptoms include Hemihypertrophy (one side of the body larger than the other), Macroglossia (enlarged tongue), and Wilms tumor (a type of kidney cancer).