ZTTK syndrome
ZTTK Syndrome
ZTTK Syndrome (pronounced: zee-tee-tee-kay syndrome) is a rare genetic disorder characterized by multiple congenital anomalies. The syndrome is named after the initials of the four researchers who first described it: Zhong, Taylor, Toriello, and Kelley.
Etymology
The term ZTTK Syndrome is an acronym derived from the surnames of the four researchers who first described the syndrome: Zhong, Taylor, Toriello, and Kelley. The syndrome is also known as MOSCA Syndrome.
Definition
ZTTK Syndrome is a complex developmental disorder that affects multiple systems of the body. It is characterized by intellectual disability, developmental delay, distinctive facial features, and various physical abnormalities. The syndrome is caused by mutations in the SON gene.
Symptoms
The symptoms of ZTTK Syndrome can vary greatly among affected individuals. Common symptoms include intellectual disability, developmental delay, distinctive facial features, and various physical abnormalities such as heart defects, skeletal abnormalities, and vision problems.
Causes
ZTTK Syndrome is caused by mutations in the SON gene. This gene provides instructions for making a protein that is involved in RNA processing, a process that is important for normal development and function of cells.
Diagnosis
Diagnosis of ZTTK Syndrome is based on clinical evaluation, detailed patient history, and identification of characteristic symptoms. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for ZTTK Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and management of individual symptoms.
Prognosis
The prognosis for individuals with ZTTK Syndrome varies depending on the severity of symptoms. With appropriate support and treatment, many individuals with the syndrome can lead fulfilling lives.
See also
External links
- Medical encyclopedia article on ZTTK syndrome
- Wikipedia's article - ZTTK syndrome
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