Traducción y análisis de palabras por inteligencia artificial ChatGPT
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- etimología
Qué (quién) es Pfeiffer type acrocephalosyndactyly - definición
Wikipedia
Pfeiffer syndrome 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. In addition, the syndrome includes abnormalities of the hands (such as wide and deviated thumbs) and feet (such as wide and deviated big toes).
Pfeiffer syndrome is caused by mutations in the fibroblast growth factor receptors FGFR1 and FGFR2. The syndrome is grouped into three types, type 1 (classic Pfeiffer syndrome) being milder and caused by mutations in either gene and types 2 and 3 being more severe, often leading to death in infancy, caused by mutations in FGFR2.
There is no cure for the syndrome. Treatment is supportive and often involves surgery in the earliest years of life to correct skull deformities and respiratory function. Most individuals with Pfeiffer syndrome type 1 have a normal intelligence and life span, while types 2 and 3 typically result in neurodevelopmental disorders and early death.
Pfeiffer syndrome affects about 1 in 100,000 births. The syndrome is named after German geneticist Rudolf Arthur Pfeiffer (1931–2012), who described it in 1964.
