Spondyloepiphyseal dysplasia tarda

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 27
OrphanetNr: 93284
OMIM Id: 184100
271600
313400
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed: 51952004

Prevalence, inheritance and age of onset:

Prevalence: > 0.6 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
2
 (HPO:0000272) Malar flattening 277 / 7739
3
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
4
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
5
 (HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
6
 (HPO:0002751) Kyphoscoliosis 131 / 7739
7
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
8
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
9
 (HPO:0005743) Avascular necrosis of the capital femoral epiphysis 17 / 7739
10
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
11
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
12
 (HPO:0001369) Arthritis 44 / 7739
13
 (HPO:0000768) Pectus carinatum 136 / 7739
14
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
15
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
16
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
17
 (HPO:0001552) Barrel-shaped chest 31 / 7739
18
 (HPO:0003311) Hypoplasia of the odontoid process Frequent [Orphanet] 34 / 7739
19
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
20
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
21
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
22
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
23
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
24
 (HPO:0008922) Childhood-onset short-trunk short stature 4 / 7739
25
 (HPO:0003308) Cervical subluxation 6 / 7739
26
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
27
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: