Multiple epiphyseal dysplasia type 1

General Information (adopted from Orphanet):

Synonyms, Signs: EPIPHYSEAL DYSPLASIA, RIBBING TYPE, INCLUDED
MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-RELATED EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE, INCLUDED
EDM1
MED1
Polyepiphyseal dysplasia type 1
Number of Symptoms 38
OrphanetNr: 93308
OMIM Id: 132400
ICD-10: Q77.3
UMLs: C1838280
MeSH: C535501
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple epiphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
2
 (HPO:0002515) Waddling gait 56 / 7739
3
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
4
 (HPO:0002663) Delayed epiphyseal ossification 21 / 7739
5
 (HPO:0010585) Small epiphyses 16 / 7739
6
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
7
 (HPO:0010582) Irregular epiphyses 19 / 7739
8
 (HPO:0010049) Short metacarpal 99 / 7739
9
 (HPO:0005743) Avascular necrosis of the capital femoral epiphysis 17 / 7739
10
 (HPO:0001367) Abnormal joint morphology Frequent [Orphanet] 53 / 7739
11
 (HPO:0006429) Broad femoral neck 18 / 7739
12
 (HPO:0008800) Limited hip movement 3 / 7739
13
 (HPO:0002761) Generalized joint laxity 8 / 7739
14
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
15
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
16
 (HPO:0002983) Micromelia Frequent [Orphanet] 130 / 7739
17
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
18
 (HPO:0002970) Genu varum Occasional [Orphanet] 60 / 7739
19
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
20
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
21
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
22
 (HPO:0100864) Short femoral neck 36 / 7739
23
 (HPO:0009803) Short phalanx of finger 79 / 7739
24
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
25
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
26
 (HPO:0008843) Hip osteoarthritis 12 / 7739
27
 (HPO:0003502) Mild short stature 19 / 7739
28
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
29
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
30
 (OMIM) Avascular necrosis of femoral head 2 / 7739
31
 (OMIM) Final adult height 145-170cm 1 / 7739
32
 (OMIM) Broad, short femoral neck 3 / 7739
33
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
34
 (OMIM) Mild irregularity of vertebral endplates 1 / 7739
35
 (OMIM) Late ossifying epiphyses 2 / 7739
36
 (OMIM) Dwarfism, mild short-limb 1 / 7739
37
 (OMIM) Mild to moderate short stature 7 / 7739
38
 (OMIM) Irregular, small epiphyses 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Multiple epiphyseal dysplasia is a skeletal disorder characterized by short stature and early-onset osteoarthrosis (Briggs et al., 1995).

- Genetic Heterogeneity of Multiple Epiphyseal Dysplasia

Multiple epiphyseal dysplasia is a genetically heterogeneous disorder. See ...
Diagnosis OMIM Genetic diagnosis of the COMP-related skeletal dysplasias pseudoachondroplasia and multiple epiphyseal dysplasia is difficult because COMP mutations are scattered throughout the gene and 5 additional disease genes for multiple epiphyseal dysplasia exist. Mabuchi et al. (2004) presented evidence ...
Clinical Description OMIM Severe osteoarthritis of the hips develops in early adulthood. The diagnosis in the adult is aided by the changes in the distal tibia (Leeds, 1960). A deficiency in the lateral part of the distal tibial ossification center seen ...
Molecular genetics OMIM As outlined by Hecht et al. (1995) and by Briggs et al. (1995), it is generally agreed that the EDM1 and PSACH loci are in the centromeric region of 19p, 19p13.1-p12. Furthermore, the gene for cartilage oligomeric matrix ...