Goldberg–Shprintzen syndrome

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Autosomal recessive - en

Goldberg–Shprintzen syndrome (GSS) is a rare genetic disorder characterized by a combination of intestinal abnormalities, distinctive facial features, and neurological issues. It was first described by Goldberg and Shprintzen in the early 1980s.

Clinical Features[edit | edit source]

Individuals with Goldberg–Shprintzen syndrome typically present with a range of clinical features, including:

Genetics[edit | edit source]

Goldberg–Shprintzen syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in GSS have not been definitively identified, but research is ongoing to determine the genetic basis of the syndrome.

Diagnosis[edit | edit source]

The diagnosis of Goldberg–Shprintzen syndrome is primarily based on clinical features and family history. Genetic testing may be used to confirm the diagnosis and to identify the specific genetic mutation responsible for the condition.

Management[edit | edit source]

There is no cure for Goldberg–Shprintzen syndrome, and treatment is primarily supportive and symptomatic. Management may include:

Related Pages[edit | edit source]

References[edit | edit source]

External Links[edit | edit source]

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Contributors: Prab R. Tumpati, MD