Pfeiffer syndrome
acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull
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. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and 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) is milder and caused by mutations in either gene; types 2 and 3 are 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 persons with Pfeiffer syndrome type 1 have a normal intelligence and life span; types 2 and 3 typically cause neurodevelopmental disorders and early death. Later in life, surgery can help in bone formation and facial construction.
Pfeiffer syndrome affects about 1 in 100,000 persons. The syndrome is named after a German geneticist, Rudolf Arthur Pfeiffer (1931–2012), who described it in 1964.
Begin with the source’s own compact description: “Pfeiffer syndrome” is acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull. The dossier treats that line as a proposition to test through Pfeiffer, syndrome and acrocephalosyndactylia, not as a finished interpretation.
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This entry incorporates text from “Pfeiffer syndrome” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.