Multiple Epiphyseal Dysplasia, Dominant
Summary
Excerpted from the GeneReview:Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children report fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Michael D Briggs
- Michael J Wright
- Geert R Mortier
- view full author information
Available tests
8 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (8 available)
Genes See tests for all associated and related genes
Also known as: DIPOA, EDM5, HOA, OADIP, OS2, SEMDBCD, MATN3
Summary: matrilin 3
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