Osteogenesis imperfecta type V
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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: 216828
Definition
Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).
Epidemiology
To date 47 cases have been reported.
Etiology
The causal gene for OI type V is not known
Differential diagnosis
A clinically similar but histologically different type of OI type V (sometimes described as OI type VI) has been described and is thought to be autosomal recessive but the causal gene is not known.
Genetic counseling
Transmission is thought to be autosomal dominant.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Gaithersburg, MD, 20878, United States Phone: 301-947-0083 Toll Free: 844-889-7579 Fax : 301-947-0456 Email: bonelink@oif.org Url: http://www.oif.org Name: Children's Brittle Bone Foundation 7701 95th Street
Pleasant Prairie, WI, 53158 , United States Phone: 773-236-2223 Fax : 262-947-0724 Email: info@cbbf.org Url: http://www.cbbf.org/ Name: Canadian Osteogenesis Imperfecta Society COIS PO Box 38189 Castlewood 550 Eglington Ave West
Toronto Ontario, Canada M5N 1B0
Canada Phone: 844-889-7579 Email: COIS-SCOI@oif.org Url: https://oif.org/cois/ Name: The Brittle Bone Society 30 Guthrie Street Dundee
DD1 5BS
United Kingdom Phone: (+44) 01382- 204446 Fax : (+44) 01382- 206771 Email: bbs@brittlebone.org Url: http://www.brittlebone.org/
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