Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr: 166029
OMIM Id: 609324
ICD-10: Q77.3
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: Multiple epiphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003411) Proximal femoral metaphyseal irregularity 7 / 7739
2
 (HPO:0005059) Arthralgia/arthritis 141 / 7739
3
 (HPO:0004582) Irregularity of vertebral bodies 1 / 7739
4
 (HPO:0002834) Flared femoral metaphysis 6 / 7739
5
 (HPO:0006429) Broad femoral neck 18 / 7739
6
 (HPO:0002829) Arthralgia 79 / 7739
7
 (HPO:0100864) Short femoral neck 36 / 7739
8
 (HPO:0002857) Genu valgum 144 / 7739
9
 (HPO:0006398) Flat distal femoral epiphysis 2 / 7739
10
 (HPO:0002812) Coxa vara 58 / 7739
11
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
12
 (HPO:0003015) Flared metaphysis 44 / 7739
13
 (HPO:0003365) Arthralgia of the hip 10 / 7739
14
 (HPO:0000926) Platyspondyly 150 / 7739
15
 (HPO:0003950) Flared elbow metaphyses 2 / 7739
16
 (HPO:0001155) Abnormality of the hand 54 / 7739
17
 (HPO:0004322) Short stature 1232 / 7739
18
 (OMIM) Mild irregularity of vertebral bodies 1 / 7739
19
 (OMIM) Limited hip rotation 1 / 7739
20
 (OMIM) Short wide femoral neck 3 / 7739
21
 (OMIM) Normal patella 1 / 7739
22
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
 (OMIM) Marked deformity of or absent proximal femoral epiphyses 1 / 7739
24
 (OMIM) Mild platyspondyly 14 / 7739
25
 (OMIM) Mildly flattened distal femoral epiphyses 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jakkula et al. (2005) identified 3 patients with a strikingly similar severe early-onset dysplasia of the proximal femurs with almost complete absence of the secondary ossification centers and wide, short femoral necks with irregular metaphyses. All 3 cases ...
Molecular genetics OMIM - Exclusion Studies

In none of the patients reported by Jakkula et al. (2005) was a mutation found in the COMP (600310), DTDST (606718), or MATN3 (602109) genes.