Beckwith-wiedemann syndrome

Beckwith-Wiedemann syndrome
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Overgrowth, macroglossia, abdominal wall defects
Complications	Increased risk of childhood cancer
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutations, epigenetic alterations
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management, surgical interventions
Medication	N/A
Prognosis	Variable
Frequency	1 in 13,700 births
Deaths	N/A

Beckwith-Wiedemann syndrome (BWS) is a congenital growth disorder characterized by a wide range of symptoms and an increased risk of childhood cancer. It is named after the American pediatrician John Bruce Beckwith and the German geneticist Hans-Rudolf Wiedemann, who independently described the condition in the 1960s.

Clinical Features

BWS is primarily characterized by:

• Overgrowth: Children with BWS often exhibit macrosomia, or excessive birth weight and length.
• Macroglossia: An enlarged tongue, which can cause difficulties with feeding, breathing, and speech.
• Abdominal wall defects: Such as omphalocele or umbilical hernia.
• Hemihyperplasia: Asymmetrical overgrowth of one side of the body.
• Ear creases or pits: Unusual folds or small holes in the skin near the ears.

Genetic and Epigenetic Causes

BWS is caused by abnormalities in the imprinting of genes on chromosome 11p15.5. This region contains several genes that are crucial for growth regulation, including IGF2 and H19.

• Genetic mutations: Mutations in the CDKN1C gene can lead to BWS.
• Epigenetic alterations: Abnormal methylation patterns at the imprinting centers IC1 and IC2 are common in BWS.
• Paternal uniparental disomy: In some cases, two copies of chromosome 11p15.5 are inherited from the father, leading to overexpression of paternally expressed genes.

Diagnosis

Diagnosis of BWS is based on clinical evaluation and can be confirmed with genetic testing. Key diagnostic criteria include the presence of at least three major features or two major and one minor feature of the syndrome.

Management

Management of BWS involves a multidisciplinary approach:

• Monitoring for cancer: Regular screening for Wilms tumor and hepatoblastoma is recommended due to the increased risk of these cancers.
• Surgical interventions: Surgery may be required to correct macroglossia or abdominal wall defects.
• Growth monitoring: Regular assessment of growth and development is important.

Prognosis

The prognosis for individuals with BWS varies. While many children lead healthy lives, the risk of cancer and other complications necessitates ongoing medical care.

Also see

• Overgrowth syndromes
• Congenital disorders
• Genomic imprinting
• Wilms tumor