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Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification
N H Robin1, J A Scott, J E Arnold
1Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.
Insights
Pfeiffer syndrome (PS) type 3, a severe genetic disorder, presents varied neurodevelopmental outcomes. Aggressive management can lead to favorable results, but prognosis remains guarded for most patients.
Area of Science:
- Genetics
- Pediatrics
- Craniofacial Anomalies
Background:
- Pfeiffer syndrome (PS) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, and limb abnormalities.
- PS is classified into three subtypes, with types 2 and 3 representing more severe manifestations and higher risks for neurodevelopmental issues and reduced life expectancy.
Observation:
- This review examines seven children diagnosed with Pfeiffer syndrome type 3, all exhibiting severe clinical features.
- Despite the severity, neurodevelopmental outcomes varied, with normal development in three, mild delay in two, and moderate delay in one child.
Findings:
- Children with severe PS types 2 and 3 face increased risks for neurodevelopmental challenges.
- Favorable outcomes are achievable in some cases of severe PS with proactive medical and surgical interventions.
Implications:
- Aggressive management strategies are recommended for Pfeiffer syndrome types 2 and 3.
- While improved outcomes are possible, the overall prognosis for neurodevelopment and life expectancy in severe PS remains guarded and requires careful monitoring.
Abstract:
Pfeiffer syndrome (PS) is an autosomal dominant condition comprising bilateral coronal craniosynostosis, midface hypoplasia with a beaked nasal tip, and broad and medially deviated thumbs and great toes. It is a clinically variable disorder and has been divided into three subtypes [Cohen, 1993: Am J Med Genet 45:300-307]. Type 1 represents the less severe cases, while types 2 and 3 are the more severe cases. These latter types tend to have a higher risk for neurodevelopmental problems and a reduced life expectancy. Here we review the clinical course of seven children with PS type 3. All of these children had severe manifestations of PS; however, development was essentially normal in three, mild delay was noted in two, and moderate delay in one. Favorable outcomes in children with types 2 and 3 PS were also documented by Moore et al. [1995: Cleft Pal-Craniofac J 32:62-70]. These cases illustrate that while children with PS types 2 and 3 have an increased risk for neurodevelopmental difficulties, a favorable outcome can be achieved in some cases with aggressive medical and surgical management. Finally, although such management should be the rule for PS types 2 and 3, it needs to be remembered that normal outcome is not the rule. The prognosis for favorable neurodevelopmental outcome and/or life expectancy remains guarded in most cases.