Search
multiple epiphyseal dysplasia (EDM)
A genetic disorder of generalized skeletal dysplasia
Classification:
- broadly categorized into
- more severe Fairbank type
- milder ribbing type
Pathology:
- generalized skeletal dysplasia
Genetics:
- associated with defects in COMP gene (type 1)
- recessively inherited form associated with defects in SLC26A2 (type 4)
- associated with defects in MATN3 (type 5) [6]
- associated with defects in COL9A1 (type 6)
- associated with defects in COL9A2 (type 2) [4]
- associated with defects in COL9A3 (type 3) [5]
Clinical manifestations:
1) general
- joint pain
- joint deformity
- waddling gait
- short stature
2) Fairbank type
- shortness of stature
- short & stubby fingers,
- small epiphyses in several joints, including the knee, ankle, hand, & hip
3) ribbing type
- confined predominantly to the hip joints
- hands are normal
- stature that is normal or near-normal
4) type 4
- early childhood-onset hip dysplasia & recurrent patella dislocation
- short stature is uncommon
5) type 5
- relatively mild & clinically variable
- delayed & irregular ossification of the epiphyses
- early-onset osteoarthritis
Radiology:
- delayed, irregular mineralization of epiphyseal ossification centers & of the centers of the carpal bone & tarsal bone
Laboratory:
- cartilage oligomeric matrix protein in serum (type 1)
Differential diagnosis:
- less severe than pseudoachondroplasia (also resulting from defects in COMP gene)
Related
cartilage oligomeric matrix protein; thrombospondin 5 (COMP, EDM1, PSACH, TSP5)
Specific
multiple epiphyseal dysplasia with myopia & conductive deafness
General
skeletal dysplasia
osteochondrodysplasia
Database Correlations
OMIM correlations
References
- OMIM :accession 132400
- OMIM :accession 226900
- OMIM :accession 614135
- OMIM :accession 600204
- OMIM :accession 600969
- OMIM :accession 607078