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Disease Profile

Ribbing disease

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

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ICD-10

#N/A

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.

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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)

Multiple diaphyseal sclerosis; Diaphyseal sclerosis, multiple; Hereditary multiple diaphyseal sclerosis

Categories

Connective tissue diseases

Summary

Ribbing disease is a rare disease that causes bony growths to develop on the long bones. These bony growths most commonly affect the long bones of the lower legs, such as the thigh bone (femur) and shin bone (tibia) but can also affect the long bones of the arms. Signs and symptoms of the disease may include pain and muscle weakness in the areas where the bone growths are occurring.[1] The bone growths typically occur only on one side of the body or in different bones on both sides of the body.[2] These symptoms most commonly begin during adulthood, typically when a person is around 30-years-old.[1] Ribbing disease has similar signs and symptoms to another disease called Camurati-Engelmann disease (CED). However, symptoms of CED typically begin at a younger age and may affect more bones on both sides of the body than Ribbing disease does.[3][4]

The exact cause of Ribbing disease is currently unknown.[5] Some researchers think that Ribbing disease is caused by genetic changes (pathogenic variants or mutations) in the TGFB1 gene, and that the disease is inherited in an autosomal recessive manner.[3][4][6] Diagnosis of Ribbing disease is based on observing signs and symptoms of the disease such as bone pain, especially in the bones of the legs. The diagnosis can be confirmed with procedures that help visualize the bones in the body including CT scan, MRI, and bone scan.[1] Treatment options for Ribbing disease may include medications such as non-steroidal anti-inflammatory drugs (NSAIDS), bisphosphonate, and prednisone. If medications do not help resolve the symptoms of Ribbing disease, a surgical procedure called intramedullary reaming may be recommended.[7]

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 recessive inheritance
0000007
Diaphyseal sclerosis
Increased bone density in shaft of long bone
0003034

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.

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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ribbing disease. Click on the link to view a sample search on this topic.

References

  1. Pijls BG, Steentjes K, Schoones JW, and Dijkstra SP. Ribbing disease: a systematic review. Acta Radiologica. April 2018; 59(4):448-453. https://www.ncbi.nlm.nih.gov/pubmed/28691528.
  2. Ribbing disease. Online Mendelian Inheritance in Man (OMIM). June 10, 2009; https://www.ncbi.nlm.nih.gov/omim/601477.
  3. Wallace SE and Wilcox WR. Camurati-Engelmann Disease. GeneReviews. October 12, 2017; https://www.ncbi.nlm.nih.gov/books/NBK1156/.
  4. Boulet C, Madani H, Lenchik L, Vanhoenacker F, Amalnath DS, de Mey J, and De Maeseneer M. Sclerosing bone dysplasias: genetic, clinical, and radiology update of hereditary and non-hereditary disorders. The British Journal of Radiology. June 2016; 89(1062):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5258139/.
  5. Zhang LL, Jiang WM, Yang HL, and Luo ZP. Treatment of Ribbing disease with 5-year follow-up and literature review. Osteoporosis International. April 2017; 28(4):1499-1502. https://www.ncbi.nlm.nih.gov/pubmed/28101629.
  6. Di Carlo M, Silveri F, Tardella M, Carotti M, and Salaffi F. Multiple diaphyseal sclerosis (Ribbing disease): what about neridronate?. Osteoporosis International. October 2016; 27(10):3127-3131. https://www.ncbi.nlm.nih.gov/pubmed/27105644.
  7. Noain-Sanz E, Martínez de Morentin-Garraza J, and Eslava-Gurrea E. Intramedullary reaming in Ribbing disease. Revista Espanola de Cirugia Ortopedica y Traumatologia. May-June 2013; 57(3):231-234. https://www.ncbi.nlm.nih.gov/pubmed/23746922.