craniosynostosis, Philadelphia type

Craniosynostosis, Philadelphia type is a syndromic form of craniosynostosis that primarily affects the skull and the hands and feet. It is characterized by a long, narrow head shape along with a relatively normal appearance of the face and complete soft tissue fusion between fingers and toes. This condition is very rare, affecting fewer than 1 in 1 million people. Some affected individuals have been noted to demonstrate variability in the severity of symptoms.

The clinical presentation is marked by craniosynostosis, which affects the skull shape, and long palpebral fissures, as well as finger syndactyly, all of which are observed in the vast majority of cases. Individuals typically present with the characteristic long, narrow (dolichocephalic) head shape and complete soft tissue fusion of the digits on the hands and feet, which can be an important clue in making the diagnosis. Not all individuals experience all features, and severity varies considerably.

While the precise genetic basis remains under investigation, the available information suggests that craniosynostosis, Philadelphia type is transmitted in an autosomal dominant manner. There is noted variable expression, particularly regarding the hand findings, and incomplete penetrance of the cranial features. This means that even within families, the specific features and their severity can differ among affected individuals. Genetic counseling is recommended for families to understand these complexities.

Currently, management focuses on supportive care and symptom management rather than specific drug treatments. Treatment is tailored to the individual and typically involves a multidisciplinary team, which may include surgical specialists and other healthcare professionals. Genetic counseling is also recommended, and patients should discuss treatment options with their healthcare team to determine which interventions may be most appropriate for their particular situation.

Outcomes vary depending on symptom severity, the age at diagnosis, and access to specialized care. With current standards of care, many individuals are able to live into adulthood, and improvements in management continue to evolve over time. That severity and symptoms vary widely between individuals, and outcomes described in medical literature continue to evolve as standards of care improve. Families may find it helpful to connect with specialists experienced in managing craniofacial and limb anomalies as part of ongoing care.