Massa casaer ceulemans syndrome
diseaseOn this page
Also known as arthrogryposis multiplex congenita associated with lissencephaly
Summary
Massa casaer ceulemans syndrome (MONDO:0043123) is a disease. A subtype of arthrogryposis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | massa casaer ceulemans syndrome |
| Mondo ID | MONDO:0043123 |
| MeSH | C536031 |
| UMLS | C2931090 |
| MedGen | 418986 |
| GARD | 0003407 |
| Is cancer (heuristic) | no |
Also known as: arthrogryposis multiplex congenita associated with lissencephaly
Disease family
This is a subtype of arthrogryposis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › movement disorder › arthrogryposis › massa casaer ceulemans syndrome
Related subtypes (4): congenital contractural arachnodactyly, Freeman-Sheldon syndrome, boylan dew greco syndrome, distal arthrogryposis Moore weaver 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.