Costello syndrome
Also known as FCS syndrome, congenital myopathy with excess of muscle spindles, faciocutaneoskeletal syndrome, CSTLO+1 more
FCS syndrome, congenital myopathy with excess of muscle spindles, faciocutaneoskeletal syndrome, CSTLO, myopathy, congenital, with excess of muscle spindles.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Clinical trials
The current development programme across all trial phases.
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
FCS syndrome, congenital myopathy with excess of muscle spindles, faciocutaneoskeletal syndrome, CSTLO, myopathy, congenital, with excess of muscle spindles
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Related entities are derived from literature co-mention (studied together) — associative, not causal.