[MIM 301 030]

(X-linked intellectual deficict type Van Esch)

Prevalence: <1 / 1,000,000. X-linked recessive transmission of a mutation of the POLA1 gene (Xp22.11-p21.3), coding for the DNA polymerase alpha.

Genetic intellectual disability, characterized by :

-        developmental retardation

-        mild to moderate intellectual disability,

-        low birth weight,

-        moderate to severe structural retardation,

-        microcephaly

-        variable hypergonadotropic hypogonadism.

Mid-facial dysmorphism is marked by upward oriented palpebral fissures and a prominent nasal root.

Anesthetic implications:

intellectual deficit, microcephaly

References :

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Updated: January 2024