Craniosynostosis, Philadelphia type
{{Infobox medical condition
|name = Craniosynostosis, Philadelphia type
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|caption = Autosomal dominant inheritance
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}}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.{{Cite web |title=Craniosynostosis, Philadelphia type (Concept Id: C1832590) |url=https://www.ncbi.nlm.nih.gov/medgen/321988 |access-date=2023-09-14 |website=www.ncbi.nlm.nih.gov |language=en}}{{Cite web |title=#185900 - CHROMOSOME 2q35 DUPLICATION SYNDROME |url=https://omim.org/entry/185900?search=Craniosynostosis,%20Philadelphia%20type&highlight=craniosynostosi%20philadelphia%20type |access-date=2023-09-14 |website=omim.org |language=en-us}}{{Cite web |title=Craniosynostosis, Philadelphia type - About the Disease - Genetic and Rare Diseases Information Center |url=https://rarediseases.info.nih.gov/diseases/1601/craniosynostosis-philadelphia-type |access-date=2023-09-14 |website=rarediseases.info.nih.gov |language=en |archive-date=2023-12-04 |archive-url=https://web.archive.org/web/20231204071413/https://rarediseases.info.nih.gov/diseases/1601/craniosynostosis-philadelphia-type |url-status=live }}
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).