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 Drs. Cowchock, Wapner, and Kurtz in 1982.

Symptoms and Signs

The syndrome is characterized by a variety of symptoms, including intellectual disability, hearing loss, visual impairment, and musculoskeletal abnormalities. Other symptoms may include microcephaly (small head size), micrognathia (small jaw), and cleft palate.

Genetics

Cowchock-Wapner-Kurtz syndrome is believed to be an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the syndrome. The exact gene responsible for the syndrome has not yet been identified.

Diagnosis

Diagnosis of Cowchock-Wapner-Kurtz syndrome is based on clinical findings and may be confirmed by genetic testing. However, due to the rarity of the syndrome, it may be difficult to diagnose.

Treatment

There is currently no cure for Cowchock-Wapner-Kurtz syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and occupational therapy.

Prognosis

The prognosis for individuals with Cowchock-Wapner-Kurtz syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the syndrome.

See Also

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

References

• Cowchock, S., Wapner, R., & Kurtz, R. (1982). A new syndrome with muscle wasting, mental retardation, and hearing loss. American Journal of Medical Genetics, 13(4), 373-379.

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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