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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RePORTER and GeneTests indicate 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 is to identify additional gene mutations for craniometaphyseal dysplasia and to study the function of the caustive gene - ANKH - and its mutations.
The director of this study is Ernst Reichenberger, PhD. Contact information is provided below.
Phone: (860) 679-2062
Fax: (860) 679-2910
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). 2009; http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia. Accessed 8/24/2010.
- Reichenberger E, Chen IP. Craniometaphyseal Dysplasia. GeneReviews. 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cranio-md. Accessed 8/24/2010.