Wiedemann–Grosse–Dibbern syndrome

Wiedemann–Grosse–Dibbern Syndrome

Wiedemann–Grosse–Dibbern syndrome is a rare genetic disorder characterized by a combination of distinctive facial features, growth abnormalities, and developmental delays. It is named after the researchers who first described the condition. This syndrome is part of a group of disorders known as overgrowth syndromes, which are characterized by excessive growth and other systemic manifestations.

Clinical Features

Individuals with Wiedemann–Grosse–Dibbern syndrome typically present with a range of clinical features, which may include:

• Facial Dysmorphism: Distinctive facial features such as a broad forehead, hypertelorism (wide-set eyes), and a prominent chin.
• Overgrowth: Accelerated growth in infancy and childhood, often resulting in above-average height and weight.
• Developmental Delay: Delays in reaching developmental milestones, including motor skills and speech.
• Neurological Abnormalities: Some individuals may experience seizures or other neurological issues.
• Other Features: Additional features may include macrocephaly (enlarged head), hypotonia (reduced muscle tone), and joint hypermobility.

Genetics

Wiedemann–Grosse–Dibbern syndrome is believed to be caused by mutations in specific genes, although the exact genetic basis is not fully understood. It is typically inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

Diagnosis of Wiedemann–Grosse–Dibbern syndrome is based on clinical evaluation, detailed patient history, and genetic testing. Genetic testing can confirm the presence of mutations associated with the syndrome.

Management

Management of Wiedemann–Grosse–Dibbern syndrome is symptomatic and supportive. It may involve:

• Growth Monitoring: Regular monitoring of growth parameters to manage overgrowth.
• Developmental Support: Early intervention programs, including physical, occupational, and speech therapy.
• Neurological Care: Management of seizures and other neurological symptoms if present.
• Multidisciplinary Approach: Involvement of various specialists such as geneticists, neurologists, and endocrinologists.

Prognosis

The prognosis for individuals with Wiedemann–Grosse–Dibbern syndrome varies depending on the severity of symptoms and the presence of associated complications. With appropriate management, many individuals can lead relatively normal lives.

Also see

• Overgrowth syndrome
• Beckwith-Wiedemann syndrome
• Sotos syndrome
• Genetic disorders

NIH genetic and rare disease info

• NIH info on Wiedemann–Grosse–Dibbern syndrome

Wiedemann–Grosse–Dibbern syndrome is a rare disease.

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