Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis
Open accessAbstract
OBJECTIVES: We describe the first cohort-based analysis of the impact of genetic disorders in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis and to provide rational criteria for clinical genetic testing. METHODS: We undertook targeted molecular genetic and cytogenetic testing for 326 children who required surgery because of craniosynostosis, were born in 1993–2002, presented to a single craniofacial unit, and were monitored until the end of 2007. RESULTS: Eighty-four children (and 64 relatives) had pathologic genetic alterations (86% single-gene mutations and 14% chromosomal abnormalities). The FGFR3 P250R mutation was the single largest contributor (24%) to the genetic group. Genetic diagnoses accounted for 21% of all craniosynostosis cases and were associated with increased rates of many complications. Children with an initial clinical diagnosis of nonsyndromic craniosynostosis were more likely to have a causative mutation if the synostoses were unicoronal or bicoronal (10 of 48 cases) than if they were sagittal or metopic (0 of 55 cases; P = .0003). Repeat craniofacial surgery was required for 58% of children with single-gene mutations but only 17% of those with chromosomal abnormalities (P = .01). CONCLUSIONS: Clinical genetic assessment is critical for the treatment of children with craniosynostosis. Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be targeted to patients with coronal or multisuture synostoses. Single-gene disorders that disrupt physiologic signaling in the cranial sutures often require reoperation, whereas chromosomal abnormalities follow a more-indolent course, which suggests a different, secondary origin of the associated craniosynostosis.
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Wilkie et al. (2010) found that 21% of non-syndromic craniosynostosis patients had a genetic cause, mainly single-gene mutations (86%) and fewer chromosomal abnormalities (14%), with FGFR3 P250R being the most common.
“Results showed that 21% of all non-syndromic had a genetic cause, mainly single-gene mutations (86%) and fewer chromosomal abnormalities (14%) with the FGFR3 P250R mutation being the most common.”
From Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years (2025) · cites this paper as [30]
The Results report that 21% of all children with craniosynostosis had a proven genetic cause; the 86% single-gene and 14% chromosomal breakdown also describes genetic cases overall. For cases initially classified as non-syndromic, the Results instead report single-gene mutations in 11/204 (5.4%), with FGFR3 P250R the most common individual mutation. The claim incorrectly applies the overall percentages to non-syndromic patients. (LLM, conf=0.94)
Experimental — accuracy not yet measuredWilkie et al. found that sagittal craniosynostosis showed minimal genetic links, suggesting non-genetic factors play a greater role.
“In contrast, sagittal craniosynostosis showed minimal genetic links, with only a small percentage linked to single-gene mutations and even fewer chromosomal abnormalities.”
From Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years (2025) · cites this paper as [30]
The Results (page unavailable) report negative molecular tests in all 27 tested children with non-syndromic sagittal synostosis, and no clinically significant chromosome abnormalities among tested non-syndromic children, including 14 with sagittal synostosis. These findings support a low yield for the genetic changes examined, but do not establish that sagittal craniosynostosis generally has minimal genetic links or that non-genetic factors play a greater role. The Results also report chromosome abnormalities involving midline sutures, so the finding needs its non-syndromic qualifier. (LLM, conf=0.82)
Experimental — accuracy not yet measuredUnlike coronal synostosis, which has stronger genetic associations, sagittal cases likely involve environmental factors.
“Unlike coronal synostosis, which has stronger genetic associations, sagittal cases likely involve environmental factors.”
From Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years (2025) · cites this paper as [30]
The Results (Indications for Cytogenetic and Molecular Genetic Testing; page unavailable) report a substantially higher single-gene mutation yield in non-syndromic coronal than sagittal synostosis. The paper also describes mechanical contributions to craniosynostosis generally, but does not specifically attribute sagittal cases to environmental factors. (LLM, conf=0.87)
Experimental — accuracy not yet measuredWilkie et al. showed that sagittal craniosynostosis has minimal genetic links, reducing recurrence risk but complicating early diagnosis.
“Wilkie et al. showed that sagittal craniosynostosis has minimal genetic links, reducing recurrence risk but complicating early diagnosis.”
From Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years (2025) · cites this paper as [30]
In Results (page unavailable), all 27 tested children with non-syndromic sagittal synostosis had negative molecular genetic tests; the Discussion says routine testing is not supported for that group. The paper does not show that this finding reduces recurrence risk or complicates early diagnosis. Its Conclusions instead say genetic assessment helps estimate recurrence risks generally. (LLM, conf=0.86)
Experimental — accuracy not yet measuredIn the authors' 10-year prospective craniosynostosis cohort, a genetic diagnosis was made in 21% of cases.
“In a recent analysis of a 10-year prospective cohort of craniosynostosis presenting to our unit, a genetic diagnosis was achieved in 21% of cases, comprising 86% single gene disorders and 15% chromosome abnormalities (one patient had both).7”
From Craniosynostosis (2011) · cites this paper as [7]
The Abstract (Results) says genetic diagnoses accounted for 21% of craniosynostosis, but the Results specify that this figure is 46 of 215 children born in 1998–2002. Across the full cohort, 84 of 326 children were classified as having a proven genetic cause, so 21% is not the proportion of all cohort cases. (LLM, conf=0.87)
Experimental — accuracy not yet measured
The genes most commonly mutated in craniosynostosis are FGFR2, FGFR3, TWIST1, and EFNB1.
“Genes most commonly mutated in craniosynostosis are FGFR2, FGFR3, TWIST1 and EFNB1.”
From Craniosynostosis (2011) · cites this paper as [7]
The lower reoperation rate in patients with chromosome abnormalities suggests that their associated craniosynostosis has a different, secondary origin.
“Compared with single gene disorders, which often required reoperation (58% of cases), patients with chromosome abnormalities followed a less aggressive course (reoperation rate 17%) suggesting a different, secondary origin of the associated craniosynostosis.”
From Craniosynostosis (2011) · cites this paper as [7]
In the authors' cohort, the most frequently mutated genes among genetic cases were FGFR2 (32%), FGFR3 (25%), TWIST1 (19%), and EFNB1 (7%).
“The genes most frequently mutated were FGFR2 (32% of all genetic cases), FGFR3 (25%), TWIST1 (19%) and EFNB1 (7%).”
From Craniosynostosis (2011) · cites this paper as [7]
In the Oxford study, single-gene disorders often required reoperation (58%), whereas patients with chromosome abnormalities had a lower reoperation rate (17%).
“Compared with single gene disorders, which often required reoperation (58% of cases), patients with chromosome abnormalities followed a less aggressive course (reoperation rate 17%) suggesting a different, secondary origin of the associated craniosynostosis.”
From Craniosynostosis (2011) · cites this paper as [7]
The Oxford study found that 85% of patients with chromosome abnormalities had metopic or sagittal synostosis.
“The Oxford study 7 showed a predominance (85%) of metopic or sagittal synostosis in patients with chromosome abnormalities.”
From Craniosynostosis (2011) · cites this paper as [7]
Muenke syndrome, defined by the Pro250Arg substitution, is the most common individual genetic abnormality in craniosynostosis, accounting for about 5% of all cases.
“Muenke syndrome, defined by identification of the Pro250Arg substitution, is individually the most common genetic abnormality found in craniosynostosis, comprising B5% of all cases.7”
From Craniosynostosis (2011) · cites this paper as [7]
Among genetic diagnoses in the authors' cohort, 86% were single-gene disorders and 15% were chromosome abnormalities, with one patient having both.
“In a recent analysis of a 10-year prospective cohort of craniosynostosis presenting to our unit, a genetic diagnosis was achieved in 21% of cases, comprising 86% single gene disorders and 15% chromosome abnormalities (one patient had both).7”
From Craniosynostosis (2011) · cites this paper as [7]
Published studies of the prevalence of submicroscopic chromosomal abnormalities in syndromic craniosynostosis have ranged widely, from 6.7% to 28%.
“Published studies of the prevalence of submicroscopic chromosomal abnormalities in syndromic craniosynostosis have ranged widely, from 6.7% 7 to 28% (ref.38).”
From Craniosynostosis (2011) · cites this paper as [7]
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Craniosynostosis: Clinical Presentation, Genetics, and Prenatal Diagnosis
Brah, T. K., Thind, R., & Abel, D. E. (2020) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0000000000000830 · Cited by 15 · see citing works
- Authors
- Wilkie, A. O. M., Byren, J. C., Hurst, J. A., Jayamohan, J., Johnson, D., Knight, S. J. L., Lester, T., Richards, P. G., Twigg, S. R. F., & Wall, S. A.
- Affiliations
- John Radcliffe Hospital (GB)
- Department of Clinical Genetics and
- Centre for Human Genetics (GB)
- National Health Service (GB)
- MRC Weatherall Institute of Molecular Medicine (GB)
- ORCID
- Venue
- Pediatrics
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 2010-08-01
- Volume
- 126
- Issue
- 2
- Pages
- e391-e400
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- PMC
- PMC3535761
- OpenAlex
- W1989045574
- Cited by
- 297
- References
- 51
- Citations by year
- 2026: 8 · 2025: 15 · 2024: 24 · 2023: 12 · 2022: 17 · 2021: 17 · 2020: 23 · 2019: 17 · 2018: 22 · 2017: 34 · 2016: 22 · 2015: 10 · 2014: 24 · 2013: 22 · 2012: 16
- FWCI
- 9.18
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- PEDIATRICS (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Wellcome Trust (078666, 075491)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Keywords
- craniosynostosis, single-gene mutations, chromosomal abnormalities, genetic testing, nonsyndromic craniosynostosis, coronal synostosis, sagittal synostosis, metopic synostosis, pathogenesis
- MeSH terms
- Chromosome Aberrations, Craniosynostoses, Exons, Humans, Infant, Infant, Newborn, Molecular Biology, Signal Transduction, Prevalence, Point Mutation, Neurosurgical Procedures, Plastic Surgery Procedures, Cytogenetic Analysis, Genetic Diseases, Inborn, Receptor, Fibroblast Growth Factor, Type 3
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