This website provides information on patients with mutations in the ANKH gene, including clinical data, molecular data, management and research options.
The syndromes caused by mutations in the ANKH gene are autosomal dominant craniometaphyseal dysplasia (AD-CMD) and autosomal dominant chondrocalcinosis type 2 (CCAL2).
AD-CMD is characterized by progressive hyperostosis of craniofacial bones and flaring under-trabeculated metaphyses of long bones. CCAL2 is characterized by deposition of calcium pyrophosphate (CPP) dihydrate in articular hyaline and fibro-cartilage.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ANKH gene.
Ernst Reichenberger, PhD, UConn Health, Farmington, CT, USA, firstname.lastname@example.org
I-Ping Chen, DDS, PhD, UConn Health, Farmington, CT, USA, email@example.com
Charlene Williams, PhD, Cooper Medical School of Rowan University, Camden, NJ, USA, firstname.lastname@example.org
Thomas Carpenter, MD, Yale New Haven Children’s Hospital, New Haven, CT, USA, email@example.com