Acrocephalosyndactyly type I: genes and variants
Acrocephalosyndactyly type I is linked to 1 analyzed protein (FGFR2). 6 DNA variants are known to cause it; 17 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 Acrocephalosyndactyly type I
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.
6 disease-causing and 17 uncertain variants in FGFR2 are linked to Acrocephalosyndactyly type I.
Where Acrocephalosyndactyly type I variants cluster
- FGFR2 Extracellular (positions 22–377): 5 of 6 disease-causing changes, 1.9× more than its size predicts.
Known disease-causing variants in Acrocephalosyndactyly type I
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR2 S354F | 354 | Ig-like C2-type 3 | Disease-causing (★★) |
| FGFR2 S239F | 239 | Ig-like C2-type 2 | Disease-causing (★★) |
| FGFR2 S24F | 24 | Extracellular | Disease-causing (★) |
| FGFR2 S252F | 252 | Extracellular | Disease-causing (★) |
| FGFR2 Y656H | 656 | Protein kinase | Disease-causing (★) |
| FGFR2 P253F | 253 | Extracellular | Disease-causing |
Same protein, different disease
- FGFR2-related craniosynostosis is also caused by FGFR2 variants; they fall mostly in different places as the Acrocephalosyndactyly type I variants (54 disease-causing).
- Crouzon syndrome is also caused by FGFR2 variants; they fall mostly in different places as the Acrocephalosyndactyly type I variants (22 disease-causing).
- Pfeiffer syndrome is also caused by FGFR2 variants; they fall mostly in different places as the Acrocephalosyndactyly type I variants (13 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 Acrocephalosyndactyly type I variants (5 disease-causing).
- Common craniosynostosis syndromes is also caused by FGFR2 variants; they fall mostly in different places as the Acrocephalosyndactyly type I variants (5 disease-causing).
Diseases related to Acrocephalosyndactyly type I
- 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
- Levy-Hollister syndrome, also linked to FGFR2
- Saethre-Chotzen syndrome, also linked to FGFR2
- Beare-Stevenson cutis gyrata syndrome, also linked to FGFR2
Frequently asked questions
Which genes are linked to Acrocephalosyndactyly type I?
In CATVariant, Acrocephalosyndactyly type I is linked to 1 analyzed protein: FGFR2 (Fibroblast growth factor receptor 2).
How many genetic variants are linked to Acrocephalosyndactyly type I?
26 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 17 are of uncertain significance or have conflicting reports.
Which uncertain variants in Acrocephalosyndactyly type I 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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