Synonyms: ACS1 | Acrocephalosyndactyly type 1
A frequent form of acrocephalosyndactyly a group of inherited congenital malformation disorders characterized by craniosynostosis midface hypoplasia and finger and toe anomalies and/or syndactyly.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
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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.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.