[MIM 617 306]

Acronym for Coloboma, Osteopetrosis, Microphtalmia, Macrocephaly, Albinism, Deafness

Only two cases described so far. Mutation of MITF gene on 3p13. Close mutations can cause Waardenburg syndrome type 2 (see this term). Association of:

-        coloboma

-        osteopetrosis: especially at the level of the femoral heads and the ribs

-        microphthalmos with microcornea and cataract, optic nerve hypoplasia

-        macrocephaly

-        albinism

-        severe deafness, preauricular appendices

Anesthetic implications:

photophobia, protect skin and eyes from the dazzling light in the O.R.

References :

-        Aman G, Zand DJ, Hufnagel RB, Sharmma R et al.
Biallelic mutations in MITF cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
Am J Hum Genet 2016; 99: 1388-94.

Updated: April 2017