Bent bone dysplasia syndrome 1: genes and variants
Bent bone dysplasia syndrome 1 is linked to 1 analyzed protein (FGFR2). 1 DNA variants are known to cause it; 46 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 Bent bone dysplasia syndrome 1
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.
1 disease-causing and 46 uncertain variants in FGFR2 are linked to Bent bone dysplasia syndrome 1.
Known disease-causing variants in Bent bone dysplasia syndrome 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR2 Y375C | 375 | Extracellular | Disease-causing (★★) |
Same protein, different disease
- FGFR2-related craniosynostosis is also caused by FGFR2 variants; they fall mostly in different places as the Bent bone dysplasia syndrome 1 variants (54 disease-causing).
- Crouzon syndrome is also caused by FGFR2 variants; they fall mostly in different places as the Bent bone dysplasia syndrome 1 variants (22 disease-causing).
- Pfeiffer syndrome is also caused by FGFR2 variants; they fall mostly in different places as the Bent bone dysplasia syndrome 1 variants (13 disease-causing).
- Acrocephalosyndactyly type I is also caused by FGFR2 variants; they fall mostly in different places as the Bent bone dysplasia syndrome 1 variants (6 disease-causing).
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis is also caused by FGFR2 variants; they fall mostly in different places as the Bent bone dysplasia syndrome 1 variants (5 disease-causing).
Diseases related to Bent bone dysplasia syndrome 1
- 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
- Saethre-Chotzen syndrome, also linked to FGFR2
Frequently asked questions
Which genes are linked to Bent bone dysplasia syndrome 1?
In CATVariant, Bent bone dysplasia syndrome 1 is linked to 1 analyzed protein: FGFR2 (Fibroblast growth factor receptor 2).
How many genetic variants are linked to Bent bone dysplasia syndrome 1?
51 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 46 are of uncertain significance or have conflicting reports.
Which uncertain variants in Bent bone dysplasia syndrome 1 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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