Van De Berghe Dequeker syndrome

A rare genetic disorder affecting limb development

Van De Berghe-Dequeker syndrome is a rare congenital disorder characterized by limb malformations, particularly affecting the hands and feet. It is also known as ulnar hypoplasia-lobster claw foot syndrome.

Presentation

Individuals with Van De Berghe-Dequeker syndrome typically present with ulnar hypoplasia, which is an underdevelopment of the ulna bone in the forearm. This condition often results in limb deformities, including the characteristic "lobster claw" appearance of the hands and feet, medically referred to as ectrodactyly.

Genetics

The syndrome is believed to have a genetic basis, although the exact mode of inheritance is not well understood. It is thought to involve mutations that affect limb development during embryogenesis. Genetic counseling may be recommended for affected families.

Diagnosis

Diagnosis of Van De Berghe-Dequeker syndrome is primarily clinical, based on the observation of characteristic limb malformations. Imaging studies, such as X-rays, can be used to assess the extent of bone involvement. Genetic testing may be conducted to identify specific mutations associated with the syndrome.

Management

Management of the syndrome is typically supportive and may involve surgical interventions to correct limb deformities and improve function. Occupational therapy and physical therapy can also be beneficial in enhancing mobility and daily living skills.

Prognosis

The prognosis for individuals with Van De Berghe-Dequeker syndrome varies depending on the severity of the limb malformations and the presence of any associated anomalies. With appropriate management, many individuals can lead functional lives.

Related pages

• Ectrodactyly
• Ulnar hypoplasia
• Congenital limb deformities

References

An example of the limb malformations associated with Van De Berghe-Dequeker syndrome.

Van De Berghe Dequeker syndrome

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  Ulnar hypoplasia-lobster claw foot syndrome