Pfeiffer syndrome (also known as type V acrocephalosyndactyly) is characterized by skull and limb abnormalities.
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Epidemiology
It affects about 1 in 100,000 births
Clinical presentation
Pathology
Pfeiffer syndrome is strongly associated with mutations of the fibroblast growth factor receptor 1 gene (FGFR1) on chromosome 8 or the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10.
Classification
- type 1: classic Pfeiffer; most individuals have normal intelligence and lifespan. Inherited in an autosomal dominant pattern.
- type 2: includes a cloverleaf skull (Kleeblattschädel); occurs sporadically and has a poor prognosis with severe neurological compromise.
- type 3: includes craniosynostosis and severe proptosis; occurs sporadically and has poor prognosis.
History and etymology
It was first described by Rudolph Arthur Pfeiffer in 1964.
Differential diagnosis
Consider other forms of acrocephalosyndactyly such as
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