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Disease Profile
Osteogenesis imperfecta type II
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
Osteogenesis imperfecta congenita perinatal lethal form; Osteogenesis imperfecta congenita; Vrolik type of osteogenesis imperfecta;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 216804
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 | ||
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
Absent ossification of calvaria |
Absent bone maturation of skullcap
|
0005623 |
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 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 |
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
-
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: [email protected]
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: [email protected]
Website: https://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: [email protected]
Website: https://www.oif.org -
The Brittle Bone Society
30 Guthrie Street
Dundee
DD1 5BS
United Kingdom
Telephone: (+44) 01382204446
Fax: (+44) 01382206771
E-mail: [email protected]
Website: https://www.brittlebone.org/
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
- 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.