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Disease Profile

Osteogenesis imperfecta type IV

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

Q78.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

OI type 4; Osteogenesis imperfecta with normal sclerae; OI type IV;

Categories

Congenital and Genetic Diseases; Mouth Diseases; Musculoskeletal Diseases

Summary

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]

Symptoms

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.

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

Treatment

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.

    Organizations

    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

      Learn more

      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.

          References

          1. Robert D Steiner, MD, Jessica Adsit, MS, CGC, and Donald Basel, MD. COL1A1/2-Related Osteogenesis Imperfecta. GeneReviews. February 2013; https://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; https://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.