Craniosynostosis, Philadelphia type is a rare autosomal dominant syndrome characterized by sagittal craniosynostosis (scaphocephaly) and soft tissue syndactyly of the hands and feet. This condition is considered a form of acrocephalosyndactyly.
Signs and symptoms Features of this condition include:
Sagittal craniosynostosis (dolichocephaly/scaphocephaly) Mitten-like syndactyly
Facial features in this condition are usually normal.
History In 1996, a distinct form of acrocephalosyndactyly was reported in five generations of a single family. Over these five generations, an autosomal dominant pattern of sagittal craniosynostosis and soft tissue syndactyly was noted. The syndactyly was mitten-like and resembled Apert syndrome but was excluded as being caused by Apert syndrome due to the lack of bony involvement.
Causes This condition is caused by duplications in chromosome 2 near-identical to those responsible for syndactyly type 1 (Chromosome 2q35 Duplication Syndrome). References