Cowchock–Wapner–Kurtz syndrome

Cowchock–Wapner–Kurtz syndrome is a rare genetic disorder characterized by a variety of physical and developmental abnormalities. It was first described by Dr. Michael Cowchock, Dr. Leonard Wapner, and Dr. Barry Kurtz in 1982.

Symptoms and Signs

The syndrome is characterized by a range of symptoms, including intellectual disability, microcephaly (small head size), hypotonia (low muscle tone), and seizures. Other features may include dysmorphic facial features, congenital heart defects, and skeletal abnormalities. The severity and combination of symptoms can vary widely among affected individuals.

Genetics

Cowchock–Wapner–Kurtz syndrome is believed to be an autosomal recessive disorder, which means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the syndrome. The specific gene associated with the syndrome has not yet been identified.

Diagnosis

Diagnosis of Cowchock–Wapner–Kurtz syndrome is based on clinical features and may be confirmed by genetic testing. However, because the specific gene associated with the syndrome has not yet been identified, genetic testing may not always be conclusive.

Treatment

There is currently no cure for Cowchock–Wapner–Kurtz syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy to help manage developmental delays and physical disabilities. Medications may be used to manage seizures and other symptoms.

Prognosis

The prognosis for individuals with Cowchock–Wapner–Kurtz syndrome varies widely, depending on the severity and combination of symptoms. Some individuals may have a normal lifespan with appropriate management of symptoms, while others may have a shortened lifespan due to complications such as severe intellectual disability or heart defects.

See Also

• List of genetic disorders
• Autosomal recessive inheritance
• Genetic testing

NIH genetic and rare disease info

• NIH info on Cowchock–Wapner–Kurtz syndrome

Cowchock–Wapner–Kurtz syndrome is a rare disease.

Cowchock–Wapner–Kurtz syndrome Resources
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