Zori Stalker Williams syndrome
Zori Stalker Williams Syndrome
Zori Stalker Williams Syndrome (ZSWS), pronounced as /ˈzɔːri ˈstɔːkər ˈwɪljəmz sɪnˈdroʊm/, is a rare genetic disorder characterized by a variety of physical and developmental abnormalities. The syndrome was first described by Dr. Roberto Zori, Dr. Howard M. Stalker, and Dr. John C. Williams in 1993.
Etymology
The syndrome is named after the three doctors who first described it. The term "syndrome" is derived from the Greek word "σύνδρομον" (sýndromon), meaning "concurrence of symptoms" or "concurrence of running together".
Symptoms
The symptoms of Zori Stalker Williams Syndrome can vary greatly among affected individuals. Common symptoms include growth retardation, intellectual disability, microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features such as a prominent forehead, deep-set eyes, and a small jaw. Some individuals may also have heart defects, kidney abnormalities, and other health problems.
Causes
Zori Stalker Williams Syndrome is caused by mutations in a gene on chromosome 1. The exact gene involved is not yet known. The syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell must have mutations for an individual to be affected.
Diagnosis
Diagnosis of Zori Stalker Williams Syndrome is based on clinical features and confirmed by genetic testing. The syndrome can be difficult to diagnose because its symptoms overlap with those of other genetic disorders.
Treatment
There is currently no cure for Zori Stalker Williams Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and treatment for specific symptoms such as heart defects or kidney abnormalities.
See also
References
External links
- Medical encyclopedia article on Zori Stalker Williams syndrome
- Wikipedia's article - Zori Stalker Williams syndrome
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