Humero-radial synostosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 3265
OMIM Id: 143050
236400
ICD-10: Q74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 150 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[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:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
2
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
3
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
4
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
5
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
6
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
7
 (HPO:0001850) Abnormality of the tarsal bones Occasional [Orphanet] 40 / 7739
8
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
9
 (HPO:0003019) Abnormality of the wrist Occasional [Orphanet] 52 / 7739
10
 (HPO:0003041) Humeroradial synostosis Very frequent [Orphanet] 19 / 7739
11
 (HPO:0002435) Meningocele Occasional [Orphanet] 23 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: