| Craniosynostosis, Philadelphia type | |
|---|---|
 | |
| Autosomal dominant inheritance |
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
- ^ "Craniosynostosis, Philadelphia type (Concept Id: C1832590)". www.ncbi.nlm.nih.gov. Retrieved 2023-09-14.
- ^ "#185900 - CHROMOSOME 2q35 DUPLICATION SYNDROME". omim.org. Retrieved 2023-09-14.
- ^ "Craniosynostosis, Philadelphia type - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2023-09-14.