Dysspondyloenchondromatosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr: 85198
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with disorganized development of skeletal components
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
2
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
3
 (HPO:0001367) Abnormal joint morphology Very frequent [Orphanet] 53 / 7739
4
 (HPO:0002991) Abnormality of the fibula Frequent [Orphanet] 49 / 7739
5
 (HPO:0100777) Exostoses Very frequent [Orphanet] 32 / 7739
6
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
7
 (HPO:0002997) Abnormality of the ulna Frequent [Orphanet] 75 / 7739
8
 (HPO:0003468) Abnormality of the vertebrae Very frequent [Orphanet] 77 / 7739
9
 (HPO:0100559) Lower limb asymmetry Very frequent [Orphanet] 30 / 7739
10
 (HPO:0000926) Platyspondyly Frequent [Orphanet] 150 / 7739
11
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
12
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
13
 (HPO:0002763) Abnormal cartilage morphology Very frequent [Orphanet] 15 / 7739
14
 (HPO:0010622) Neoplasm of the skeletal system Occasional [Orphanet] 30 / 7739
15
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
16
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
17
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
18
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
19
 (HPO:0011276) Vascular skin abnormality Very frequent [Orphanet] 24 / 7739
20
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: