Craniometaphyseal dysplasia, autosomal dominant
- Craniometaphyseal dysplasia Jackson type
Your QuestionMy niece has been diagnosed with autosomal dominant craniometaphyseal dysplasia. Can you provide information regarding treatment and research ?
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ClinicalTrials.gov indicates that research related to craniometaphyseal dysplasia is currently underway at the University of Connecticut's Center for Restorative Medicine and Skeletal Development. The purpose of this study entitled, Genetic and Functional Analysis of Craniometaphyseal Dysplasia, is to identify genes and regulatory elements on chromosomes that are the cause for CMD. The investigators will also study blood and tissue samples from patients to learn about the processes that lead to the disorder. The long-term goal is to find mechanisms to slow down bone deposition in CMD patients.
The director of this study is Ernst Reichenberger, PhD. Contact information is provided below.
Phone: (860) 679-2062
This laboratory welcomes contact from patients/families interested in participating in a research study for this condition. Referrals from clinicians are also welcomed.
- Craniometaphyseal dysplasia. Genetics Home Reference (GHR). February 2009; https://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia.
- Reichenberger E, Chen IP. Craniometaphyseal Dysplasia, Autosomal Dominant. GeneReviews. January 15, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1461/.