Van Esch–O’Driscoll syndrome (VEODS) is a rare X-linked recessive syndromic intellectual disability caused by pathogenic variants in POLA1on chromosome Xp22.1–p21.3.
The disorder primarily affects males, while carrier females are typically unaffected due to skewed X-inactivation.
Core clinical features include:
• Developmental delay and intellectual disability (mild to moderate)
• Moderate to severe short stature
• Microcephaly
• Hypogonadism (often hypogonadotropic)
• Variable congenital anomalies
Reported prevalence is extremely low (<1 per 1,000,000).
POLA1 VEODS