SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 184100
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:0000470) Short neck 345 / 7739
2
 (HPO:0008922) Childhood-onset short-trunk short stature 4 / 7739
3
 (HPO:0001552) Barrel-shaped chest 31 / 7739
4
 (HPO:0000926) Platyspondyly 150 / 7739
5
 (HPO:0002751) Kyphoscoliosis 131 / 7739
6
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
7
 (HPO:0003308) Cervical subluxation 6 / 7739
8
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
9
 (HPO:0000768) Pectus carinatum 136 / 7739
10
 (OMIM) Flat facies 5 / 7739
11
 (OMIM) Abnormal femoral head with degenerative changes 1 / 7739
12
 (OMIM) Normocephaly 10 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: