National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Osteogenesis imperfecta type V


Other Names:
OI type 5; Type V OI; OI type V; OI type 5; Type V OI; OI type V; OI with calcification in interosseous membranes See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

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.
Last updated: 3/1/2010

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Dentinogenesis imperfecta 0000703
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] 		0001382
1%-4% of people have these symptoms
Anterior radial head dislocation 0005084
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Hyperextensibility at elbow 0010485
Hyperextensibility of the finger joints
Finger joint hyperextensibility
Hyperextensible digits
Hyperextensible finger
[ more ] 		0001187
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Triangular face
Face with broad temples and narrow chin
Triangular facial shape
[ more ] 		0000325
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality
[ more ] 		0001939
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Abnormality of the eye
Abnormal eye
0000478
Autosomal dominant inheritance 0000006
Biconcave vertebral bodies 0004586
Hyperplastic callus formation 0030268
Limited pronation/supination of forearm 0006394
Osteopenia 0000938
Platyspondyly
Flattened vertebrae
0000926
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] 		0002757
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Vertebral wedging
Wedge-shaped vertebrae
0008422
Wormian bones
Extra bones within cranial sutures
0002645
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Last updated: 7/1/2020

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  
  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Patient Registry

  • The Brittle Bone Disorders Consortium (BBD) is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research on Osteogenesis Imperfecta (OI). The goal of the consortium is to learn more about the disease, develop therapies, and to inform the public about the latest research and information about OI. The BBD has a contact registry for patients who wish to be contacted about clinical research opportunities and updates on the progress of the research projects.

    For more information on the registry see: https://www.rarediseasesnetwork.org/registry/index.htm

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Osteogenesis imperfecta type V. Click on the link to view a sample search on this topic.

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