Defining genetic and physiopathological bases of orbital hypertelorism: about a systematic literature review.
J Craniomaxillofac SurgJul 15, 2026 (epub)
A Morice, Pech de Laclause M, J Amiel et al.
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In 30 seconds
This systematic literature review examined the genetic and physiopathological bases of orbital hypertelorism across various congenital disorders. It highlights that anomalies during different developmental stages can lead to hypertelorism, with genetic factors playing a significant role. The review emphasizes the complexity of establishing genotype-phenotype correlations due to variable expressivity.
Key findings
- Orbital hypertelorism is linked to congenital disorders like craniofrontonasal dysplasia and RASopathies.
- Early embryonic defects can cause primary orbital widening.
- Perinatal disturbances in cranial suture fusion contribute to hypertelorism in syndromic craniosynostoses.
- Numerous genes have been identified as implicated in the mechanisms of orbital hypertelorism.
Why it matters
Understanding the genetic and developmental mechanisms of orbital hypertelorism is crucial for improving diagnostic accuracy and genetic counseling, which can enhance patient management and treatment planning.