Exostoses - anetodermia - brachydactyly type E

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr: 1962
OMIM Id: 133690
ICD-10: Q87.5
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: 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:0004279) Short palm Very frequent [Orphanet] 323 / 7739
2
 (HPO:0100777) Exostoses Very frequent [Orphanet] 32 / 7739
3
 (HPO:0005863) Type E brachydactyly 4 / 7739
4
 (HPO:0002762) Multiple exostoses 6 / 7739
5
 (HPO:0004334) Dermal atrophy Very frequent [Orphanet] 34 / 7739
6
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
7
 (OMIM) Macular skin atrophy 1 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739
10
 (OMIM) Anetodermia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: