Pfeiffer syndrome
Synonyms: ACS5 | Acrocephalosyndactyly type 5
An acrocephalosyndactyly associated with craniosynostosis midfacial hypoplasia hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Pfeiffer syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Born a Hero, Research Foundation
Our mission is to accelerate innovation and research to improve the quality of life for patients with FGFR Syndromes, including Pfeiffer Syndrome.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.