Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > Crouzon syndrome
Crouzon syndrome
Disease Category: Syndromic Craniosynostosis
Crouzon syndrome, also known as craniofacial dysotosis, is a genetic syndrome in which the seams of the skull fuse in abnormally. This affects the shape of the head and face. It is the most common type of syndromic craniosynostosis. Gene mutations are responsible for the abnormal skull fusions. Crouzon syndrome shares many of the same features as Apert syndrome.
Research groups studying this disease
Syndromic Craniosynostosis
Advancing Craniosynostosis Treatment Rare Diseases Consortium (ACT)
Born a Hero Research Foundation
Our mission is to accelerate innovation and research to improve the quality of life for patients with FGFR syndromes.
CAPPKIDS
CAPPS (Craniosynostosis And Positional Plagiocephaly Support) supports and educates families with craniosynostosis and positional plagiocephaly. CAPPS was started by parents and is dedicated to connecting patients and parents with healthcare providers to ensure that patients receive the best available multidisciplinary care in the most timely manner.
Children's Craniofacial Association
Nationally and internationally, CCA addresses the medical, financial, psychosocial, emotional, and educational concerns relating to craniofacial conditions.