Humero-radio-ulnar synostosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 3266
OMIM Id:
ICD-10: Q74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Joint formation defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000069) Abnormality of the ureter Very frequent [Orphanet] 47 / 7739
2
 (HPO:0000072) Hydroureter Very frequent [Orphanet] 146 / 7739
3
 (HPO:0002974) Radioulnar synostosis Very frequent [Orphanet] 52 / 7739
4
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
5
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
6
 (HPO:0002817) Abnormality of the upper limb Very frequent [Orphanet] 25 / 7739
7
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
8
 (HPO:0003041) Humeroradial synostosis Very frequent [Orphanet] 19 / 7739
9
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: