Pfeiffer syndrome type 1

Definition

Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.

Also known as classic Pfeiffer syndrome, Pfeiffer syndrome type 1 — per MONDO

Also identified as

• Orphanet 93258 per MONDO
• UMLS C5438812 per MONDO