SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGERTYPE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr:
OMIM Id: 609223
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003370) Flat capital femoral epiphysis 15 / 7739
2
(HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
3
(HPO:0002938) Lumbar hyperlordosis 73 / 7739
4
(HPO:0000768) Pectus carinatum 136 / 7739
5
(HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
6
(HPO:0003301) Irregular vertebral endplates 25 / 7739
7
(HPO:0000926) Platyspondyly 150 / 7739
8
(HPO:0002945) Intervertebral space narrowing 7 / 7739
9
(HPO:0006429) Broad femoral neck 18 / 7739
10
(HPO:0002650) Scoliosis 705 / 7739
11
(HPO:0003184) Decreased hip abduction 7 / 7739
12
(HPO:0002857) Genu valgum 144 / 7739
13
(HPO:0002970) Genu varum 60 / 7739
14
(HPO:0002942) Thoracic kyphosis 14 / 7739
15
(OMIM) Flattened capital femoral epiphyses 5 / 7739
16
(OMIM) Short trunk short stature (<3rd - 50th percentile) 1 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
(OMIM) Mild spondyloepiphyseal dysplasia 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Leroy et al. (2004) described 2 families with a novel form of spondyloepiphyseal dysplasia tarda. The first family consisted of 4 brothers (3 affected), and the second family consisted of an affected brother and sister. Consanguinity in the ...