Saethre-Chotzen syndrome: genes and variants
Saethre-Chotzen syndrome is linked to 1 analyzed protein (FGFR2). 4 DNA variants are known to cause it; 4 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 Saethre-Chotzen syndrome
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.
4 disease-causing and 4 uncertain variants in FGFR2 are linked to Saethre-Chotzen syndrome.
Known disease-causing variants in Saethre-Chotzen syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR2 P253R | 253 | Extracellular | Disease-causing (★★) |
| FGFR2 W290C | 290 | Ig-like C2-type 3 | Disease-causing (★★) |
| FGFR2 G338E | 338 | Ig-like C2-type 3 | Disease-causing (★★) |
| FGFR2 E565G | 565 | Protein kinase | Disease-causing (★★) |
Same protein, different disease
- FGFR2-related craniosynostosis is also caused by FGFR2 variants; they fall mostly in different places as the Saethre-Chotzen syndrome variants (54 disease-causing).
- Crouzon syndrome is also caused by FGFR2 variants; they fall mostly in different places as the Saethre-Chotzen syndrome variants (22 disease-causing).
- Pfeiffer syndrome is also caused by FGFR2 variants; they fall mostly in different places as the Saethre-Chotzen syndrome variants (13 disease-causing).
- Acrocephalosyndactyly type I is also caused by FGFR2 variants; they fall mostly in different places as the Saethre-Chotzen syndrome variants (6 disease-causing).
- Common craniosynostosis syndromes is also caused by FGFR2 variants; they fall partly in the same places as the Saethre-Chotzen syndrome variants (5 disease-causing).
Diseases related to Saethre-Chotzen syndrome
- FGFR2-related craniosynostosis, also linked to FGFR2
- Pfeiffer syndrome, also linked to FGFR2
- Crouzon syndrome, also linked to FGFR2
- Colorectal cancer, also linked to FGFR2
- Gastric cancer, also linked to FGFR2
- Bilateral sensorineural hearing impairment, also linked to FGFR2
- Jackson-Weiss syndrome, also linked to FGFR2
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, also linked to FGFR2
- Common craniosynostosis syndromes, also linked to FGFR2
- Acrocephalosyndactyly type I, also linked to FGFR2
- Levy-Hollister syndrome, also linked to FGFR2
- Beare-Stevenson cutis gyrata syndrome, also linked to FGFR2
Frequently asked questions
Which genes are linked to Saethre-Chotzen syndrome?
In CATVariant, Saethre-Chotzen syndrome is linked to 1 analyzed protein: FGFR2 (Fibroblast growth factor receptor 2).
How many genetic variants are linked to Saethre-Chotzen syndrome?
10 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Saethre-Chotzen syndrome 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center