Multiple epiphyseal dysplasia, with miniepiphyses

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr: 166032
OMIM Id: 609325
ICD-10: Q77.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive 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:0002656) Epiphyseal dysplasia 25 / 7739
2
 (HPO:0100864) Short femoral neck 15523498 IBIS 36 / 7739
3
 (HPO:0002970) Genu varum 60 / 7739
4
 (HPO:0006429) Broad femoral neck 15523498 IBIS 18 / 7739
5
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
6
 (HPO:0002761) Generalized joint laxity 8 / 7739
7
 (HPO:0003065) Patellar hypoplasia 8 / 7739
8
 (HPO:0004322) Short stature 1232 / 7739
9
 (OMIM) Abnormal proximal femur with miniepiphyses 1 / 7739
10
 (OMIM) Small, secondary ossification centers (miniepiphyses) 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) Normal vertebrae 2 / 7739
13
 (OMIM) Wide, deformed femoral neck 1 / 7739
14
 (OMIM) Small, irregular patellae 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jakkula et al. (2005) identified a novel form of multiple epiphyseal dysplasia in 2 patients characterized by strikingly small ossification centers ('mini-epiphyses'), which resulted in severe dysplasia of the proximal femoral heads. The spine was normal in both ...
Molecular genetics OMIM - Exclusion Studies

In the patients reported by Jakkula et al. (2005), no mutations were identified in the COMP (600310), DTDST (606718), or MATN3 (602109) genes.