Mikroftalmia z anomaliami mózgu i palców

Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the <I> BMP4</I> gene, which has already been shown to play a role in eye development.