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Disease Profile

Multiple epiphyseal dysplasia 2

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)

Epiphyseal dysplasia multiple 2; EDM2

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 166002

Definition
Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Visit the Orphanet disease page for more resources.

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
30%-79% of people have these symptoms
Arthralgia of the hip
Hip joint pain
0003365
Knee pain
0030839
Limb undergrowth
limb shortening
Short limb
Short limbs

[ more ]

0009826
Postexertional malaise
0030973
Reduced arm span
0012770
5%-29% of people have these symptoms
Abnormal patella morphology
Abnormal kneecap
0003045
Abnormality of radial epiphyses
0003999
Abnormality of the ankles
0003028
Abnormality of the epiphyses of the elbow
Abnormality of end part of the elbow bone
0003946
Abnormality of the epiphyses of the feet
Abnormality of the end part of the foot bone
0010631
Bilateral coxa valga
0010665
Coxa vara
0002812
Fragmentation of the metacarpal epiphyses
Fragmentation of end part of the long bone of hand
0009189
Genu valgum
Knock knees
0002857
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
Osteoarthritis
Degenerative joint disease
0002758
Radially deviated wrists
0006190
Short stature
Decreased body height
Small stature

[ more ]

0004322
Ulnar deviated club hands
0006055
Waddling gait
'Waddling' gait
Waddling walk

[ more ]

0002515
1%-4% of people have these symptoms
Muscle weakness
Muscular weakness
0001324
Myopathy
Muscle tissue disease
0003198
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Childhood onset
Symptoms begin in childhood
0011463
Epiphyseal dysplasia
Abnormal development of the ends of long bones in arms and legs
0002656
Flattened epiphysis
Flat end part of bone
0003071
Irregular epiphyses
Irregular end part of long bone
0010582
Knee osteoarthritis
0005086
Mild short stature
0003502
Short palm
0004279
Small epiphyses
Small end part of bone
0010585

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    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.

      In-Depth Information

      • 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 Multiple epiphyseal dysplasia 2. Click on the link to view a sample search on this topic.