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.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Muenke syndrome
Muenke syndrome
Disease Category: Syndromic Craniosynostosis
Muenke syndrome, also known as FGFR3-associated coronal synostosis syndrome, is a genetic disorder characterized by the anomalies if the skull and face. Gene mutations are the cause if these skull and face differences.
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.