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 II


Other Names:
Osteogenesis imperfecta congenita perinatal lethal form; Osteogenesis imperfecta congenita; Vrolik type of osteogenesis imperfecta; Osteogenesis imperfecta congenita perinatal lethal form; Osteogenesis imperfecta congenita; Vrolik type of osteogenesis imperfecta; OI type 2; Osteogenesis imperfecta type 2; Perinatally lethal OI; Lethal osteogenesis imperfecta 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: 216804

Definition
Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

Epidemiology
The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type II is unknown.

Clinical description
There are three subtypes of OI type II (A, B and C) that are characterized by different radiological features. Patients with OI type IIA present with broad ribs with multiple fractures, continuous beaded ribs and severe undermodeling of the femur, OI type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some undermodeling of the femur, and OI type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapulae and ischiae, and slender and twisted long bones. Type IIC is extremely rare and its existence is even doubted.

Etiology
OI type IIA is caused by mutations of the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) and transmission is autosomal dominant. Type IIB can be autosomal dominant and also caused by mutations of the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) or it can be autosomal recessive and caused by mutations in the CRTAP gene (3p22) (sometimes described as OI type VII) or the LEPRE1 gene (1p34) (sometimes described as OI type VIII) or the PPIB gene (15q21-q22) (sometimes described as OI type IX).

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
Percent of people who have these symptoms is not available through HPO
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Absent ossification of calvaria
Absent bone maturation of skullcap
0005623
Autosomal dominant inheritance 0000006
Beaded ribs 0000923
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Broad long bones
Wide long bones
Widened long bones
[ more ] 		0005622
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] 		0000444
Crumpled long bones 0006367
Disproportionate short-limb short stature
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] 		0008873
Large fontanelles
Wide fontanelles
0000239
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
Nonimmune hydrops fetalis 0001790
Platyspondyly
Flattened vertebrae
0000926
Premature birth
Premature delivery of affected infants
Preterm delivery
[ more ] 		0001622
Pulmonary insufficiency 0010444
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] 		0002757
Respiratory insufficiency
Respiratory impairment
0002093
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ] 		0001518
Thin skin 0000963
Tibial bowing
Bowed shankbone
Bowed shinbone
[ more ] 		0002982
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.

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

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

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

  • 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.
  • 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.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Osteogenesis imperfecta type II. Click on the link to view a sample search on this topic.

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