Symbrachydactyly of hands and feet
disease diseaseOn this page
Also known as De Smet-Fabry-Fryns syndromefrints de Smet Fabry Fryns syndromesymbrachydactyly of the hand and foot
Summary
Symbrachydactyly of hands and feet (MONDO:0015516) is a disease. A subtype of non-syndromic brachydactyly — 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): 8
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 2 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
8 HPO clinical features (Orphanet curated; top 8 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0009800 | Maternal diabetes | Very frequent (80-99%) |
| HP:0100745 | Abnormality of the humeroulnar joint | Very frequent (80-99%) |
| HP:0002650 | Scoliosis | Frequent (30-79%) |
| HP:0003422 | Vertebral segmentation defect | Frequent (30-79%) |
| HP:0006501 | Aplasia/Hypoplasia of the radius | Frequent (30-79%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Frequent (30-79%) |
| HP:0040071 | Abnormal morphology of ulna | Frequent (30-79%) |
| HP:0031095 | Abnormal humerus morphology | Frequent (30-79%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | symbrachydactyly of hands and feet |
| Mondo ID | MONDO:0015516 |
| MeSH | C538062 |
| Orphanet | 1570 |
| ICD-11 | 159463685 |
| UMLS | C2931719 |
| MedGen | 419146 |
| GARD | 0001680 |
| Is cancer (heuristic) | no |
Also known as: De Smet-Fabry-Fryns syndrome · frints de Smet Fabry Fryns syndrome · symbrachydactyly of the hand and foot
Disease family
An umbrella term covering 2 Mondo subtypes.
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › brachydactyly › non-syndromic brachydactyly › symbrachydactyly of hands and feet
Related subtypes (2): non-syndromic brachydactyly of fingers, non-syndromic brachydactyly of toes
Subtypes (2): symbrachydactyly of hand and foot, unilateral, symbrachydactyly of hand and foot, 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.