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GTR Home > Conditions/Phenotypes > Multiple epiphyseal dysplasia type 1

Multiple epiphyseal dysplasia type 1

Synonyms
COMP-Related Multiple Epiphyseal Dysplasia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Multiple Epiphyseal Dysplasia, Autosomal Dominant
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
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Available tests

29 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CTS2, EDM1, EPD1, MED, PSACH, THBS5, TSP-5, TSP5, COMP
    Summary: cartilage oligomeric matrix protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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