Common craniosynostosis syndromes: genes and variants
Common craniosynostosis syndromes is linked to 2 analyzed proteins (FGFR2 and FGFR3). 6 DNA variants are known to cause it; 2 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Common craniosynostosis syndromes
FGFR2: Fibroblast growth factor receptor 2
Its fibroblast-growth-factor signaling regulates proliferation, differentiation, and developmental patterning across multiple tissues. Germline activating variants cause several craniosynostosis syndromes, while somatic mutations, amplification, or fusions can drive cancer.
5 disease-causing and 2 uncertain variants in FGFR2 are linked to Common craniosynostosis syndromes.
FGFR3: Fibroblast growth factor receptor 3
It normally restrains growth-plate chondrocyte proliferation while regulating multiple developmental pathways. Activating germline variants cause achondroplasia and related skeletal dysplasias, while somatic activating alterations are common in bladder cancer and some other tumors.
1 disease-causing and 0 uncertain variants in FGFR3 are linked to Common craniosynostosis syndromes.
Where Common craniosynostosis syndromes variants cluster
- FGFR2 Ig-like C2-type 3 (positions 256–358): 5 of 5 disease-causing changes, 8.0× more than its size predicts.
Known disease-causing variants in Common craniosynostosis syndromes
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR3 A391E | 391 | Transmembrane | Disease-causing (★★★★) |
| FGFR2 C342W | 342 | Ig-like C2-type 3 | Disease-causing (★★) |
| FGFR2 C342Y | 342 | Ig-like C2-type 3 | Disease-causing (★★) |
| FGFR2 C278F | 278 | Ig-like C2-type 3 | Disease-causing (★★) |
| FGFR2 Y340H | 340 | Ig-like C2-type 3 | Disease-causing (★★) |
| FGFR2 G338R | 338 | Ig-like C2-type 3 | Disease-causing (★★) |
Same protein, different disease
- FGFR2-related craniosynostosis is also caused by FGFR2 variants; they fall mostly in different places as the Common craniosynostosis syndromes variants (54 disease-causing).
- Crouzon syndrome is also caused by FGFR2 variants; they fall mostly in different places as the Common craniosynostosis syndromes variants (22 disease-causing).
- Pfeiffer syndrome is also caused by FGFR2 variants; they fall partly in the same places as the Common craniosynostosis syndromes variants (13 disease-causing).
- Acrocephalosyndactyly type I is also caused by FGFR2 variants; they fall mostly in different places as the Common craniosynostosis syndromes variants (6 disease-causing).
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis is also caused by FGFR2 variants; they fall partly in the same places as the Common craniosynostosis syndromes variants (5 disease-causing).
- FGFR3-related chondrodysplasia is also caused by FGFR3 variants; they fall mostly in different places as the Common craniosynostosis syndromes variants (20 disease-causing).
- Hypochondroplasia is also caused by FGFR3 variants; they fall mostly in different places as the Common craniosynostosis syndromes variants (15 disease-causing).
- Achondroplasia is also caused by FGFR3 variants; they fall mostly in different places as the Common craniosynostosis syndromes variants (9 disease-causing).
- Thanatophoric dysplasia is also caused by FGFR3 variants; they fall mostly in different places as the Common craniosynostosis syndromes variants (8 disease-causing).
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is also caused by FGFR3 variants; they fall mostly in different places as the Common craniosynostosis syndromes variants (5 disease-causing).
Diseases related to Common craniosynostosis syndromes
- Colorectal cancer, also linked to FGFR2 and FGFR3
- Levy-Hollister syndrome, also linked to FGFR2 and FGFR3
- Craniosynostosis syndrome, also linked to FGFR2 and FGFR3
- FGFR2-related craniosynostosis, also linked to FGFR2
- Pfeiffer syndrome, also linked to FGFR2
- Crouzon syndrome, also linked to FGFR2
- Connective tissue disorder, also linked to FGFR3
- FGFR3-related chondrodysplasia, also linked to FGFR3
- Gastric cancer, also linked to FGFR2
- Malignant tumor of urinary bladder, also linked to FGFR3
- Hypochondroplasia, also linked to FGFR3
- Carcinoma of colon, also linked to FGFR3
Frequently asked questions
Which genes are linked to Common craniosynostosis syndromes?
In CATVariant, Common craniosynostosis syndromes is linked to 2 analyzed proteins: FGFR2 (Fibroblast growth factor receptor 2) and FGFR3 (Fibroblast growth factor receptor 3).
How many genetic variants are linked to Common craniosynostosis syndromes?
8 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Common craniosynostosis syndromes look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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