mesomelic dysplasia, Savarirayan type
diseaseOn this page
Also known as mesomelic dysplasia Savarirayan typemesomelic dysplasia with absent fibulas and triangular tibiastriangular tibia and fibular aplasiatriangular tibia-fibular aplasia syndrome
Summary
mesomelic dysplasia, Savarirayan type (MONDO:0011530) is a disease. A subtype of mesomelic dysplasia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide)
- Phenotypes (HPO): 15
Clinical features
Signs & symptoms
Clinical features (HPO)
15 HPO clinical features (Orphanet curated; top 15 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | Very frequent (80-99%) |
| HP:0002827 | Hip dislocation | Very frequent (80-99%) |
| HP:0002868 | Narrow iliac wings | Very frequent (80-99%) |
| HP:0002990 | Fibular aplasia | Very frequent (80-99%) |
| HP:0003027 | Mesomelia | Very frequent (80-99%) |
| HP:0004018 | Flared radial metaphysis | Very frequent (80-99%) |
| HP:0004322 | Short stature | Very frequent (80-99%) |
| HP:0006413 | Broad tibial metaphyses | Very frequent (80-99%) |
| HP:0006434 | Hypoplasia of proximal radius | Very frequent (80-99%) |
| HP:0006487 | Bowing of the long bones | Very frequent (80-99%) |
| HP:0006633 | Glenoid fossa hypoplasia | Very frequent (80-99%) |
| HP:0008808 | High iliac wings | Very frequent (80-99%) |
| HP:0010508 | Metatarsus valgus | Very frequent (80-99%) |
| HP:0001249 | Intellectual disability | Frequent (30-79%) |
| HP:0003042 | Elbow dislocation | Frequent (30-79%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mesomelic dysplasia, Savarirayan type |
| Mondo ID | MONDO:0011530 |
| MeSH | C565349 |
| OMIM | 605274 |
| Orphanet | 85170 |
| ICD-11 | 1627637820 |
| SNOMED CT | 715652002 |
| UMLS | C1854470 |
| MedGen | 343129 |
| GARD | 0010584 |
| Is cancer (heuristic) | no |
Also known as: mesomelic dysplasia Savarirayan type · mesomelic dysplasia with absent fibulas and triangular tibias · mesomelic dysplasia, Savarirayan type · triangular tibia and fibular aplasia · triangular tibia-fibular aplasia syndrome
Disease family
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone development disease › osteochondrodysplasia › mesomelic dysplasia › mesomelic dysplasia, Savarirayan type
Related subtypes (5): mesomelic dysplasia, Kantaputra type, mesomelic dwarfism, Nievergelt type, mesomelic dwarfism, Reinhardt-Pfeiffer type, upper limb mesomelic dysplasia, Langer mesomelic dysplasia
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.