EPIPHYSEAL DYSPLASIA, MULTIPLE, 2

General Information (adopted from Orphanet):

Synonyms, Signs: EDM2
Number of Symptoms 5
OrphanetNr:
OMIM Id: 600204
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005086) Knee osteoarthritis 4 / 7739
2
(HPO:0003502) Mild short stature 19 / 7739
3
(OMIM) Flattened, irregular epiphyses 1 / 7739
4
(OMIM) Mildly short hands 1 / 7739
5
(OMIM) Varus/valgus knee deformity 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease. Onset of the disorder is usually in childhood (summary by Jackson et al., 2010). ...
Clinical Description OMIM Briggs et al. (1994) summarized the clinical findings in the family with multiple epiphyseal dysplasia (MED) originally reported by Barrie et al. (1958). Affected individuals typically presented at 2.5 to 6 years of age with pain in the ...
Molecular genetics OMIM In a Dutch kindred with MED linked to DNA markers in the 1p32 region, Muragaki et al. (1996) demonstrated a mutation in the COL9A2 gene (120260.0001).

In 12 affected members of a 4-generation family with a ...