mesomelic dwarfism, Reinhardt-Pfeiffer type
diseaseOn this page
Also known as hypoplasia of ulna and fibulamesomelic dysplasia Reinhardt-Pfeiffer typeReinhardt-Pfeiffer mesomelic dysplasiaReinhardt-Pfeiffer syndrome
Summary
mesomelic dwarfism, Reinhardt-Pfeiffer type (MONDO:0008618) 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): 13
Clinical features
Signs & symptoms
Clinical features (HPO)
13 HPO clinical features (Orphanet curated; top 13 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002983 | Micromelia | Very frequent (80-99%) |
| HP:0002992 | Abnormality of tibia morphology | Very frequent (80-99%) |
| HP:0003022 | Hypoplasia of the ulna | Very frequent (80-99%) |
| HP:0003038 | Fibular hypoplasia | Very frequent (80-99%) |
| HP:0003042 | Elbow dislocation | Very frequent (80-99%) |
| HP:0003048 | Radial head subluxation | Very frequent (80-99%) |
| HP:0003498 | Disproportionate short stature | Very frequent (80-99%) |
| HP:0009465 | Ulnar deviation of finger | Very frequent (80-99%) |
| HP:0010781 | Skin dimple | Very frequent (80-99%) |
| HP:0040071 | Abnormal morphology of ulna | Very frequent (80-99%) |
| HP:0005048 | Synostosis of carpal bones | Frequent (30-79%) |
| HP:0000486 | Strabismus | Occasional (5-29%) |
| HP:0000545 | Myopia | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mesomelic dwarfism, Reinhardt-Pfeiffer type |
| Mondo ID | MONDO:0008618 |
| MeSH | C537349 |
| OMIM | 191400 |
| Orphanet | 2634 |
| ICD-11 | 1393171517 |
| SNOMED CT | 715472000 |
| UMLS | C1860616 |
| MedGen | 395935 |
| GARD | 0003555 |
| Is cancer (heuristic) | no |
Also known as: hypoplasia of ulna and fibula · mesomelic dysplasia Reinhardt-Pfeiffer type · Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer 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 dwarfism, Reinhardt-Pfeiffer type
Related subtypes (5): mesomelic dysplasia, Kantaputra type, mesomelic dwarfism, Nievergelt type, upper limb mesomelic dysplasia, Langer mesomelic dysplasia, mesomelic dysplasia, Savarirayan type
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.