Pashayan syndrome
Pashayan Syndrome
Pashayan Syndrome (pronunciation: puh-shay-an sin-drome) is a rare genetic disorder characterized by a variety of symptoms, including intellectual disability, growth retardation, and craniofacial abnormalities. The syndrome was first described by Dr. Harry Pashayan in 1979.
Etymology
The term "Pashayan Syndrome" is derived from the name of Dr. Harry Pashayan, an American geneticist who first described the condition. The word "syndrome" comes from the Greek "syndromē," which means "concurrence of symptoms," or "running together."
Symptoms
Pashayan Syndrome is characterized by a variety of symptoms, which can vary greatly in severity. These include:
- Intellectual disability: This is a common feature of Pashayan Syndrome. Individuals with this condition often have difficulties with learning and cognitive development.
- Growth retardation: Many individuals with Pashayan Syndrome experience delays in physical growth and development.
- Craniofacial abnormalities: These can include a variety of features, such as a small head (microcephaly), a prominent forehead, wide-set eyes (hypertelorism), and a small jaw (micrognathia).
Diagnosis
Diagnosis of Pashayan Syndrome is typically based on the presence of characteristic clinical features. Genetic testing may also be used to confirm the diagnosis.
Treatment
Treatment for Pashayan Syndrome is typically supportive and based on the symptoms present in each individual. This can include educational support for intellectual disabilities, physical therapy for growth retardation, and surgical intervention for craniofacial abnormalities.
See Also
External links
- Medical encyclopedia article on Pashayan syndrome
- Wikipedia's article - Pashayan syndrome
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