Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: SED and SEMD
Number of Symptoms 13
OrphanetNr: 253
OMIM Id:
ICD-10: Q77.7
UMLs: C0038015
MeSH:
MedDRA: 10062920
Snomed: 367530008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
2
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
3
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
4
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
5
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
6
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
7
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
8
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
9
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
10
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
11
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
12
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
13
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: