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Pfeiffer syndrome type 2

MONDO:0019660

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Musculoskeletal system disorder (207) Hereditary disease (176) Bone disorder (51) Syndromic disease (25) Craniosynostosis (15) Human disease (14) Developmental defect during embryogenesis (8) Skeletal system disorder (4) Congenital limb malformation (3)

Not yet recruiting 1 Completed 1

Nano-ink gel could replace repeated skull surgeries for kids with rare genetic disorders

Disease control Not yet recruiting

This early-stage study aims to develop a personalized treatment for children with syndromic craniosynostosis, a group of rare genetic disorders where skull bones fuse too early. The approach uses a nano-engineered gel to deliver custom genetic medicine directly to the affected ar…

Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS • Aim: Disease control

Last updated Jun 27, 2026 12:09 UTC