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acrocephalosyndactyly type V (Pfeiffer syndrome)
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:
a) mild autosomal dominant form (type 1)
b) cloverleaf skull, elbow ankylosis, early death, sporadic (type 2)
c) craniosynostosis, early demise, sporadic (type 3)
General
acrocephalosyndactyly
Database Correlations
OMIM 101600
References
OMIM :accession 101600