Pfeiffer syndrome
Pfeiffer Syndrome
Pfeiffer syndrome (pronounced: /ˈfaɪfər/), is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome is named after the German geneticist Rudolf Arthur Pfeiffer, who first identified the condition in 1964.
Etymology
The term "Pfeiffer" is derived from the surname of the German geneticist Rudolf Arthur Pfeiffer. The term "syndrome" comes from the Greek word "σύνδρομον" (sýndromon), meaning "concurrence of symptoms" or "concurrence of running together".
Symptoms
The symptoms of Pfeiffer syndrome can vary greatly among individuals. Some common symptoms include:
- Craniosynostosis: Premature fusion of the skull bones.
- Proptosis: Bulging or protruding eyes.
- Midface hypoplasia: Underdevelopment of the midface.
- Broad thumb and broad great toe: These are often observed in individuals with Pfeiffer syndrome.
Causes
Pfeiffer syndrome is caused by mutations in the FGFR1 (fibroblast growth factor receptor 1) or FGFR2 (fibroblast growth factor receptor 2) genes. These genes provide instructions for making proteins that are involved in the development and maintenance of bone and brain tissue.
Diagnosis
Diagnosis of Pfeiffer syndrome is typically based on a clinical evaluation, detailed patient history, and a variety of specialized tests. Genetic testing can confirm a diagnosis.
Treatment
Treatment for Pfeiffer syndrome often involves surgery to prevent complications and improve quality of life. Other treatments may include physical therapy, speech therapy, and other supportive treatments.
See Also
External links
- Medical encyclopedia article on Pfeiffer syndrome
- Wikipedia's article - Pfeiffer syndrome
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