Pretzel syndrome

Pretzel Syndrome is a rare medical condition characterized by a variety of physical and neurological abnormalities. The name "Pretzel Syndrome" is derived from the distinctive body posture often seen in affected individuals, which resembles a twisted pretzel.

Symptoms and Signs

The symptoms of Pretzel Syndrome can vary greatly from person to person. However, common symptoms include:

• Muscle weakness and hypotonia (reduced muscle tone)
• Intellectual disability
• Seizures
• Microcephaly (abnormally small head size)
• Dysmorphic features (unusual physical characteristics)
• Gastrointestinal problems
• Respiratory problems

Causes

Pretzel Syndrome is a genetic disorder, caused by mutations in a specific gene. The exact gene involved can vary, but most cases are caused by mutations in the ZNF335 gene.

Diagnosis

Diagnosis of Pretzel Syndrome is based on the presence of characteristic symptoms and signs, as well as genetic testing to identify the causative gene mutation.

Treatment

There is currently no cure for Pretzel Syndrome. Treatment is supportive and aimed at managing symptoms. This can include physical therapy for muscle weakness, medication for seizures, and various interventions for gastrointestinal and respiratory problems.

Prognosis

The prognosis for individuals with Pretzel Syndrome can vary greatly, depending on the severity of symptoms and the presence of other health problems. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the disorder.

See Also

• List of genetic disorders
• ZNF335
• Genetic testing
• Physical therapy

References

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