Kapur Toriello syndrome
Kapur Toriello syndrome is a rare genetic disorder characterized by a variety of physical abnormalities.
Pronunciation
Kapur Toriello syndrome is pronounced as "Kah-pur Tor-ee-ello Syn-drome".
Etymology
The syndrome is named after the two doctors, Dr. Kapur and Dr. Toriello, who first described the condition in medical literature.
Symptoms
The symptoms of Kapur Toriello syndrome can vary greatly from person to person. However, common symptoms often include craniofacial abnormalities, intellectual disability, and hearing loss. Some individuals may also have heart defects, kidney abnormalities, and skeletal abnormalities.
Causes
Kapur Toriello syndrome is caused by mutations in a specific gene. The exact gene responsible for the condition is currently unknown. It is believed to be 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 Kapur Toriello syndrome is typically based on the presence of characteristic symptoms and a thorough clinical evaluation. Genetic testing may be used to confirm the diagnosis.
Treatment
Treatment for Kapur Toriello syndrome is symptomatic and supportive. This may include physical therapy, special education, and surgeries to correct physical abnormalities.
Prognosis
The prognosis for individuals with Kapur Toriello syndrome varies depending on the severity of symptoms. With appropriate treatment and support, many individuals with the condition can lead fulfilling lives.
See Also
- Genetic disorder
- Autosomal recessive
- Craniofacial abnormalities
- Intellectual disability
- Hearing loss
External links
- Medical encyclopedia article on Kapur Toriello syndrome
- Wikipedia's article - Kapur Toriello syndrome
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