Beckwith-Wiedemann Syndrome (BWS)

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Description

Beckwith-Wiedemann Syndrome (BWS) is a rare, complex condition present at birth. It‘s characterized by overgrowth in certain parts of the body, such as the tongue, organs, and limbs. This blog delves into the details of BWS, covering its signs and symptoms, causes, inheritance, diagnosis, management, and ways to thrive with the condition.

Genes Involved

Genes Involved

BWS is associated with changes in specific genes responsible for regulating growth and development. These genes include:

• CDKN1C: A tumor suppressor gene that plays a vital role in cell growth control.
• KCNQ1OT1: A non-coding RNA gene involved in regulating the expression of other genes.
• H19: Another non-coding RNA gene implicated in growth regulation.

Recognizing the Signs and Symptoms

Recognizing the Signs and Symptoms

The hallmark of Beckwith-Wiedemann Syndrome is overgrowth in specific body parts. Some common signs and symptoms include:

• Large birth weight: Babies with BWS often weigh significantly more than average at birth.
• Macroglossia: An enlarged tongue, which can cause feeding difficulties.
• Omphalocele: A protrusion of abdominal organs through the belly button.
• Ear creases: Characteristic folds or creases in the earlobes.
• Hemangiomas: Benign tumors of blood vessels that can appear on the skin or organs.
• Increased risk of childhood cancers: Children with BWS have a higher likelihood of developing certain cancers, particularly Wilms tumor (kidney cancer) and hepatoblastoma (liver cancer).

Causes

Causes

BWS arises from changes in the genetic material, specifically in the region of chromosome 11p15. These alterations can be:

• Epigenetic changes: These involve modifications to the DNA that influence gene expression without altering the DNA sequence itself.
• Genetic mutations: Direct alterations to the DNA sequence within the genes mentioned above.
• Inheritance: In some cases, BWS can be inherited from a parent carrying a gene mutation.

Inheritance/recurrence risk

Inheritance or Recurrence Risk

The inheritance pattern of BWS varies depending on the underlying genetic change. In cases of epigenetic changes, the risk of recurrence in subsequent pregnancies is relatively low. However, if a parent carries a gene mutation, the risk of passing it down to their children is 50%.