Scholte–Begeer–Van Essen syndrome

Scholte–Begeer–Van Essen Syndrome

Scholte–Begeer–Van Essen syndrome is a rare genetic disorder characterized by a combination of distinctive physical and developmental features. It is named after the researchers who first described the condition. This syndrome is part of a group of disorders that affect connective tissue, leading to a variety of symptoms that can impact multiple body systems.

Clinical Features

Individuals with Scholte–Begeer–Van Essen syndrome typically present with a range of symptoms that may include:

• Craniofacial abnormalities: These may include a high forehead, wide-set eyes (hypertelorism), and a flat nasal bridge.
• Skeletal anomalies: Patients may exhibit joint hypermobility, scoliosis, and other skeletal deformities.
• Developmental delay: Affected individuals often experience delays in reaching developmental milestones, such as walking and talking.
• Intellectual disability: The severity of intellectual disability can vary among individuals with this syndrome.
• Cardiac defects: Some patients may have congenital heart defects, which require monitoring and management.

Genetics

Scholte–Begeer–Van Essen syndrome is believed to be inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. The specific gene or genes involved in this syndrome have not been definitively identified, and research is ongoing to better understand the genetic basis of the disorder.

Diagnosis

Diagnosis of Scholte–Begeer–Van Essen syndrome is based on clinical evaluation, family history, and the presence of characteristic features. Genetic testing may be used to confirm the diagnosis and to differentiate it from other similar syndromes.

Management

Management of Scholte–Begeer–Van Essen syndrome is symptomatic and supportive. It may involve a multidisciplinary team of healthcare providers, including:

• Pediatricians: To monitor growth and development.
• Cardiologists: To manage any cardiac defects.
• Orthopedists: To address skeletal abnormalities.
• Speech and occupational therapists: To assist with developmental delays and improve quality of life.

Prognosis

The prognosis for individuals with Scholte–Begeer–Van Essen syndrome varies depending on the severity of symptoms and the presence of complications. Early intervention and supportive care can improve outcomes and enhance the quality of life for affected individuals.

Also see

• Connective tissue disorder
• Genetic disorder
• Syndrome
• Developmental delay

NIH genetic and rare disease info

• NIH info on Scholte–Begeer–Van Essen syndrome

Scholte–Begeer–Van Essen syndrome is a rare disease.

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