Pretzel syndrome
Pretzel Syndrome
Pretzel Syndrome (pronounced: preht-zuhl sin-drohm) is a rare genetic disorder characterized by a range of physical and developmental abnormalities. The term "Pretzel Syndrome" is derived from the German word "pretzel", due to the characteristic positioning of the limbs in affected individuals, which resembles a pretzel.
Etymology
The term "Pretzel Syndrome" is a descriptive term based on the physical appearance of affected individuals. The word "pretzel" is of German origin, referring to a type of baked bread product that is usually twisted into a unique knot-like shape. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse of people".
Symptoms
Pretzel Syndrome is characterized by a range of symptoms, including muscular hypotonia (reduced muscle tone), arthrogryposis (joint contractures), dysmorphic features (abnormal physical features), and developmental delay. Other symptoms may include respiratory distress, feeding difficulties, and seizures.
Causes
Pretzel Syndrome is a genetic disorder, which means it is caused by abnormalities in the individual's genes. It is typically inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of Pretzel Syndrome is based on the presence of characteristic symptoms, a detailed patient history, and specialized genetic testing.
Treatment
Treatment of Pretzel Syndrome is symptomatic and supportive, focusing on managing the individual symptoms and improving the quality of life for the affected individual. This may include physical therapy, occupational therapy, and other supportive treatments.
Prognosis
The prognosis for individuals with Pretzel Syndrome varies depending on the severity of symptoms and the presence of other health conditions.
See Also
- Genetic disorder
- Autosomal recessive inheritance
- Muscular hypotonia
- Arthrogryposis
- Dysmorphic features
- Developmental delay
External links
- Medical encyclopedia article on Pretzel syndrome
- Wikipedia's article - Pretzel syndrome
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