Primrose syndrome
Primrose Syndrome
Primrose Syndrome (pronounced: /ˈprɪmˌroʊz ˈsɪndroʊm/) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and other physical abnormalities. The syndrome was first described by Dr. David Primrose in 1982, hence the name.
Etymology
The term "Primrose Syndrome" is derived from the name of Dr. David Primrose, who first described the condition in 1982. The word "syndrome" comes from the Greek "σύνδρομον" (sýndromon), meaning "concurrence of symptoms," or "running together."
Symptoms
The symptoms of Primrose Syndrome can vary greatly among affected individuals. Common symptoms include distinct facial features, such as a high forehead and a thin upper lip, intellectual disability, hearing loss, and calcification of the outer ear. Other symptoms may include skeletal abnormalities, such as osteoporosis and joint stiffness, and kidney problems.
Diagnosis
Diagnosis of Primrose Syndrome is typically based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis. The syndrome is caused by mutations in the ZBTB20 gene.
Treatment
There is currently no cure for Primrose Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and treatment for specific symptoms, such as hearing aids for hearing loss.
Prognosis
The prognosis for individuals with Primrose 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 Primrose syndrome
- Wikipedia's article - Primrose syndrome
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