Beckwith-Wiedemann Syndrome (BWS) is a genetic disorder characterized by excessive growth, congenital abnormalities and an increased risk of cancer. This syndrome can involve many different signs and symptoms and can affect various organ systems.
Beckwith-Wiedemann Syndrome is a rare disease and its exact incidence is unknown. However, the number of cases reported worldwide is quite limited.
Symptoms of Beckwith-Wiedemann Syndrome
Orthopedic manifestations of Beckwith-Wiedemann Syndrome can include curvature of the spine (scoliosis), hip dysplasia, club feet, hypertrophied (overgrown) tongues and asymmetry of the limbs.
How can parents recognize it?
Families should consult a doctor if they notice excessive growth, congenital abnormalities or other symptoms in their child. Physical examination, imaging studies and genetic testing can be used to confirm the diagnosis.
Do they have a type?
Beckwith-Wiedemann Syndrome can have different phenotypic variations but typically patients have similar symptoms.
Beckwith-Wiedemann Treatment
Treatment of Beckwith-Wiedemann Syndrome focuses on symptom management. This usually involves surgery, hormonal treatments and other supportive therapies to keep symptoms under control.
Do I need supportive devices, therapy?
In some cases of Beckwith-Wiedemann Syndrome, supportive devices (for example, orthotics or special shoes) or physical therapy may be recommended. This can help to correct joint abnormalities, increase mobility and improve quality of life.
In which cases and when is surgery performed?
Surgical intervention is often necessary in Beckwith-Wiedemann Syndrome to correct obvious orthopedic problems, such as clubfoot, or to manage serious conditions such as curvature of the spine.
What you need to know about Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome is a genetic disorder and requires a multidisciplinary approach. With early diagnosis and appropriate treatment, it is possible to manage symptoms and improve the patient’s quality of life.