Pfeiffer syndrome

MONDO:0007043

Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.

Also known as: ACS5, Pfeiffer syndrome, acrocephalosyndactyly type 5, acrocephalosyndactyly type V, type V Acrocephalosyndactyly, ACS 5, Noack syndrome, Pfeiffer type acrocephalosyndactyly

2 clinical trials for this condition and its sub-types, 1 tagged with Pfeiffer syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Acrocephalopolysyndactyly (1)

Sub-types of Pfeiffer syndrome

FGFR1-related Pfeiffer syndrome 0 trials
FGFR2-related Pfeiffer syndrome 0 trials
Pfeiffer syndrome type 1 0 trials
Pfeiffer syndrome type 2 0 trials
Pfeiffer syndrome type 3 0 trials

Including sub-types (2) Tagged with Pfeiffer syndrome (1)

Trials to join now! 1

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

Disease control Recruiting now

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 Sep 10, 2026 00:00 UTC

Pfeiffer syndrome

Where it sits in the disease tree

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