Weber Syndrome

Weber syndrome: Description and characteristics

Weber syndrome, also known as Weber A, is one of the inherited disorders belonging to the group of osteochondrodysplasias. This syndrome got its name in honor of the English physician Nigel David Weber, who first described it in 1823. Weber syndrome is characterized by various skeletal abnormalities, including deformities of the limbs and skeletal structures.

One of the main signs of Weber syndrome is an abnormality in the shape and size of the bones. Patients with this syndrome may have limb asymmetry, shortened bones, skeletal deformities, and other abnormalities. The bones of the lower extremities, such as the hips, legs and feet, are often affected. Patients may also experience scoliosis, kyphosis, and other spinal deformities.

In addition, Weber syndrome may be accompanied by other symptoms, such as vision and hearing problems, cardiovascular problems, kidney and bladder problems, and psychomotor development delays. These symptoms may occur to varying degrees and vary from patient to patient.

The cause of Weber syndrome is associated with genetic mutations. It is inherited in an autosomal dominant manner, meaning that children born to a parent with the condition have a 50% risk of developing the syndrome. Genetic tests can be used to confirm a diagnosis of Weber syndrome and determine the specific mutation that causes it.

Management of Weber syndrome is usually aimed at relieving symptoms and improving the patient's quality of life. This may include physical therapy, orthopedic interventions to correct deformities, hearing and vision prostheses, and developmental and educational support for children with developmental delays.

In conclusion, Weber syndrome is a genetic, inherited disorder characterized by various skeletal deformities and other associated symptoms. Early diagnosis and multidisciplinary treatment play an important role in managing this syndrome and improving the lives of patients suffering from it.

Introduction Weber syndrome is a congenital disease that manifests itself in the form of incomplete connection of the cerebral cortex and develops as a consequence of intrauterine pathology. It affects the brain and eyes, and leads to symptoms such as blurred vision and decreased motor function. This syndrome is named after the scientist James Weber, who first described this disease at the end of the 19th century.