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  3. Osteogenesis imperfecta type IV
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Osteogenesis imperfecta type IV


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Other Names:
OI type 4; Osteogenesis imperfecta with normal sclerae; OI type IV; OI type 4; Osteogenesis imperfecta with normal sclerae; OI type IV; Common variable OI with normal sclerae See More
Categories:
Congenital and Genetic Diseases; Mouth Diseases; Musculoskeletal Diseases
This disease is grouped under:
Osteogenesis imperfecta

Summary Summary


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Osteogenesis imperfecta type IV (OI type IV) is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones. OI type IV is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis. Although signs and symptoms can vary, affected people may experience easily broken bones, mild short stature, dentinogenesis imperfecta, adult-onset hearing loss, and normal-to-grey sclerae (the whites of the eye).[1][2][3] OI type IV is caused by changes (mutations) in the COL1A1 or COL1A2 gene and is inherited in an autosomal dominant manner. There is currently no cure for OI type IV. Treatment is supportive and based on the signs and symptoms present in each person.[1]
Last updated: 1/14/2016

Symptoms Symptoms


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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.

Showing of 14 |
Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Biconcave flattened vertebrae 0003321
Bowing of limbs due to multiple fractures 0003023
Dentinogenesis imperfecta 0000703
Femoral bowing present at birth, straightening with time
Bowing of thighbone at birth, straightening with time
0005005
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Kyphosis
Hunched back
Round back
[ more ]
0002808
Otosclerosis 0000362
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
0002757
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Scoliosis 0002650
Short stature
Decreased body height
Small stature
[ more ]
0004322
Wormian bones
Extra bones within cranial sutures
0002645
Showing of 14 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Treatment Treatment


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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.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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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.

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

Organizations Organizations


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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

  • Canadian Osteogenesis Imperfecta Society (COIS)
    PO Box 38189 Castlewood
    550 Eglington Ave West
    Toronto Ontario, Canada M5N 1B0
    Canada
    Telephone: 844-889-7579
    E-mail: COIS-SCOI@oif.org
    Website: https://oif.org/cois/
  • Children's Brittle Bone Foundation
    7701 95th Street
    Pleasant Prairie, WI 53158
    Telephone: 773-236-2223
    Fax: 262-947-0724
    E-mail: info@cbbf.org
    Website: http://www.cbbf.org/
  • Osteogenesis Imperfecta Foundation
    804 West Diamond Avenue, Suite 210
    Gaithersburg, MD 20878
    Toll-free: 844-889-7579
    Telephone: 301-947-0083
    Fax: 301-947-0456
    E-mail: bonelink@oif.org
    Website: http://www.oif.org
  • The Brittle Bone Society
    30 Guthrie Street
    Dundee
    DD1 5BS
    United Kingdom
    Telephone: (+44) 01382- 204446
    Fax: (+44) 01382- 206771
    E-mail: bbs@brittlebone.org
    Website: http://www.brittlebone.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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

  • Genetics Home Reference (GHR) contains information on Osteogenesis imperfecta type IV. This website is maintained by the National Library of Medicine.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • 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.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Osteogenesis Imperfecta
    Genetics of Osteogenesis Imperfecta
  • 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 IV. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Robert D Steiner, MD, Jessica Adsit, MS, CGC, and Donald Basel, MD. COL1A1/2-Related Osteogenesis Imperfecta. GeneReviews. February 2013; http://www.ncbi.nlm.nih.gov/books/NBK1295/#oi.Clinical_Description.
  2. Eric T Rush, MD, FAAP, FACMG. Genetics of Osteogenesis Imperfecta. Medscape Reference. October 2014; http://emedicine.medscape.com/article/947588-overview.
  3. John F Beary, III, MD; Arkadi A Chines, MD. Osteogenesis imperfecta: Clinical features and diagnosis. UpToDate. December 2015; Accessed 1/14/2016.
Do you know of a review article? We want to hear from you.
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