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What is Pfeiffer's Syndrome? |
Pfeiffer Syndrome, first reported in 1964, results from mutations in the FGFR1 or FGFR2 gene. These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. A mutation in either the FGFR1 or FGFR2 gene alters protein function and causes prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet.
Characteristics include:
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A big impact in helping kids with Pfeiffer's Syndrome and other craniofacial conditions is to be accepting of differences.
Please take a moment to read this article another mother wrote. She said it best!
Please take a moment to read this article another mother wrote. She said it best!