acrocephalosyndactyly type V (Pfeiffer syndrome)
Jump to navigation
Jump to search
Genetics
- autosomal dominant, sporadic
- associated with defects in FGFR1
- associated with defects in FGFR2
Clinical manifestations
- craniosynostosis (premature fusion of the skull sutures)
- deviation & enlargement of the thumbs & great toes
- brachymesophalangy
- phalangeal ankylosis
- varying degree of soft tissue syndactyly
- three subtypes of Pfeiffer syndrome described:
- mild autosomal dominant form (type 1)
- cloverleaf skull, elbow ankylosis, early death, sporadic (type 2)
- craniosynostosis, early demise, sporadic (type 3)