Spondylometaphyseal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr: 254
OMIM Id:
ICD-10: Q77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: Infancy
[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:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
2
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
3
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
4
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
5
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
6
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: