Definition of Lenz microphthalmia syndrome

Reviewed on 6/3/2021

Lenz microphthalmia syndrome: A genetic disorder characterized by microphthalmia (small eye) or anopthalmia (no eye) associated with malformation of the ears, teeth, fingers, skeleton, and genitourinary system. About half of patients have microcephaly (small head) and mental retardation.

The syndrome is inherited in an X-linked recessive manner with females carrying a mutation at one of two separate gene loci on the X chromosome, ANOP1 and ANOP2. Their sons, who inherit the mutation, are affected by the syndrome and rarely reproduce.

The syndrome is named for Widukind Lenz (1919-1995), a German medical geneticist, who first described the syndrome in 1955. (It was Lenz who in 1961 established that the use of thalidomide by pregnant women caused malformations and that year succeeded in having thalidomide withdrawn from the market.)


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