EPIPHYSEAL DYSPLASIA, MULTIPLE, 3

General Information (adopted from Orphanet):

Synonyms, Signs: EDM3 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY, INCLUDED
Number of Symptoms 16
OrphanetNr:
OMIM Id: 600969
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:0002656) Epiphyseal dysplasia 25 / 7739
2
(HPO:0001384) Abnormality of the hip joint 1 / 7739
3
(HPO:0002663) Delayed epiphyseal ossification 21 / 7739
4
(HPO:0010585) Small epiphyses 16 / 7739
5
(HPO:0010582) Irregular epiphyses 19 / 7739
6
(HPO:0002758) Osteoarthritis 78 / 7739
7
(HPO:0010049) Short metacarpal 99 / 7739
8
(HPO:0003502) Mild short stature 19 / 7739
9
(HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
10
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
11
(HPO:0003701) Proximal muscle weakness 105 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(OMIM) Late ossifying epiphyses 2 / 7739
14
(OMIM) Irregular, small epiphyses 6 / 7739
15
(OMIM) Mild variability in muscle fiber size 1 / 7739
16
(OMIM) Normal hands 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996).

For a general phenotypic description and a discussion of genetic ...

Clinical Description OMIM Individuals with multiple epiphyseal dysplasia (MED) typically present during childhood and adolescence with waddling gait and stiffness and/or pain in the knees. Few patients experience involvement of other joints such as the elbow, wrist, or ankle. Some patients ...
Molecular genetics OMIM In affected members of a large family with EDM3, Paassilta et al. (1999) identified a heterozygous mutation in the acceptor splice site of intron 2 of the COL9A3 gene (120270.0001).

In a 3-generation Japanese family with ...