Humeroradial synostosis
diseaseOn this page
Also known as humero-radial fusionhumeroradial synostosis (disease)
Summary
Humeroradial synostosis (MONDO:0007737) is a disease. A subtype of synostosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 11
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 150 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
11 HPO clinical features (Orphanet curated; top 11 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001376 | Limitation of joint mobility | Very frequent (80-99%) |
| HP:0003070 | Elbow ankylosis | Very frequent (80-99%) |
| HP:0003042 | Elbow dislocation | Frequent (30-79%) |
| HP:0000252 | Microcephaly | Occasional (5-29%) |
| HP:0000567 | Chorioretinal coloboma | Occasional (5-29%) |
| HP:0000612 | Iris coloboma | Occasional (5-29%) |
| HP:0002435 | Meningocele | Occasional (5-29%) |
| HP:0003019 | Abnormality of the wrist | Occasional (5-29%) |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | Occasional (5-29%) |
| HP:0008368 | Tarsal synostosis | Occasional (5-29%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | humeroradial synostosis |
| Mondo ID | MONDO:0007737 |
| OMIM | 143050 |
| Orphanet | 3265 |
| DOID | DOID:0060467 |
| ICD-11 | 518723993 |
| SNOMED CT | 205329008 |
| UMLS | C2930865 |
| MedGen | 418931 |
| GARD | 0002748 |
| Is cancer (heuristic) | no |
Also known as: humero-radial fusion · humeroradial synostosis · humeroradial synostosis (disease)
Data availability: 1 HPO phenotype.
Disease family
An umbrella term covering 4 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone development disease › dysostosis › synostosis › humeroradial synostosis
Related subtypes (10): Banki syndrome, calcaneonavicular coalition, craniosynostosis, tibio-fibular synostosis, multiple synostoses syndrome, humero-radio-ulnar synostosis, congenital radioulnar synostosis, humero-ulnar synostosis, coronal synostosis, syndactyly and jejunal atresia, non-syndromic pansynostosis
Subtypes (4): autosomal recessive humeroradial synostosis, humeroradial synostosis with craniofacial anomalies, humero-radial synostosis, unilateral, humero-radial synostosis, bilateral
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.