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Disease Profile

Osteogenesis imperfecta type III

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 3; Osteogenesis imperfecta, progressively deforming with normal sclerae; OI type III;

Categories

Congenital and Genetic Diseases; Mouth Diseases; Musculoskeletal Diseases

Summary

Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. Other signs and symptoms vary significantly from person to person but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). Most affected people are unable to walk without assistance.[1][2] OI type III is caused by changes (mutations) in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner.[1][3] Treatment is based on the signs and symptoms present in each person.[1][3]

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
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Basilar impression
0005758
Biconcave vertebral bodies
0004586
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Bowing of limbs due to multiple fractures
0003023
Decreased calvarial ossification
Soft skullcap
0005474
Dentinogenesis imperfecta
0000703
Frontal bossing
0002007
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Kyphosis
Hunched back
Round back

[ more ]

0002808
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Multiple prenatal fractures
Multiple fractures present at birth
Multiple fractures, present at birth
Numerous multiple fractures present at birth
Numerous multiple fractures that are present at birth

[ more ]

0005855
Neonatal short-limb short stature
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth

[ more ]

0008921
Platybasia
0002691
Protrusio acetabuli
0003179
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures

[ more ]

0002757
Scoliosis
0002650
Severe generalized osteoporosis
0005897
Slender long bone
Long bones slender
Thin long bones

[ more ]

0003100
Thin ribs
Slender ribs
0000883
Tibial bowing
Bowed shankbone
Bowed shinbone

[ more ]

0002982
Triangular face
Face with broad temples and narrow chin
Triangular facial shape

[ more ]

0000325
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
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

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Osteogenesis imperfecta type III. 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.
        • 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 III. 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. February 2016; https://emedicine.medscape.com/article/947588-overview.
          3. OSTEOGENESIS IMPERFECTA, TYPE III. OMIM. December 2015; https://www.omim.org/entry/259420.