Pfeiffer Syndrome Type 1
Classic Type Pfeiffer Syndrome
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📋Overview
Pfeiffer Syndrome Type 1 is a genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis), leading to abnormal head shape and facial features. It is a subtype of Pfeiffer Syndrome, which is classified into types based on severity and clinical presentation. Type 1 is the classic and mildest form, often compatible with normal intelligence and a good prognosis. The condition is caused by mutations in the FGFR1 or FGFR2 genes and is inherited in an autosomal dominant pattern.
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