[MIM 300 166]

(Lenz microphthalmia, syndromic microphthalmia type 2)

Very rare. X-linked recessive transmission of a mutation of the BCOR gene (Xp11.4).

This syndrome is allelic with the oculo-facio-cardio-dental syndrome and the  progeroid-developmental delay-cardiac arrhythmias syndrome.

Unilateral or bilateral microphthalmia (with or without clinical anophthalmia), with or without coloboma associated with extraocular signs, such as:

-        microcephaly,

-        poorly formed ears,

-        dental abnormalities: irregular incisors

-        skeletal abnormalities: thumb duplication, syndactyly, clinodactyly, camptodactyly

-        urogenital abnormalities: hypospadias, cryptorchidism, renal dysgenesis, ureteral dilation

-        moderate to severe intellectual disability.

Anesthetic implications:

according to the associated extraocular anomalies

References :

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Updated: February 2020