Craniodiaphyseal dysplasia
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1513
Definition
Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Selected Full-Text Journal Articles
Craniodiaphyseal dysplasia
Brueton LA, Winter RM. Craniodiaphyseal dysplasia. J Med Genet. 1990 Nov;27(11):701-6.
Last updated on 04-27-20
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom Email: info@esdn.org Url: http://www.esdn.org/eug/Home Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States Phone: 423-266-1632 Toll Free: 800-332-2373 Email: faces@faces-cranio.org Url: http://www.faces-cranio.org/ Name: Children's Craniofacial Association 13140 Coit Road Suite 517
Dallas, TX, 75240 , United States Phone: +1-214-570-9099 Toll Free: 1-800-535-3643 Fax : +1-214-570-8811 Email: contactCCA@ccakids.com Url: https://ccakids.org/ Name: World Craniofacial Foundation P.O. Box 515838
Dallas, TX, 75251-5838, United States Phone: 972-566-6669 Toll Free: 800-533-3315 Fax : 972-566-3850 Email: info@worldcf.org Url: http://www.worldcf.org/ Name: Greenberg Center for Skeletal Dysplasias Johns Hopkins University Institute of Genetic Medicine
600 North Wolfe Street Blalock 1008
Baltimore, MD, 21287, United States Phone: 410-614-0977 Email: deedee@jhmi.edu Url: http://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinic/about/greenberg-center-skeletal-dysplasia/ Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom Email: info@esdn.org Url: http://www.esdn.org/eug/Home
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