Microphthalmia with brain and digit anomalies

Microphthalmia with brain and digit anomalies is characterized 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 BMP4 gene, which has already been shown to play a role in eye development.

Also known as: Bakrania-Ragge syndrome, MCOPS6, microphthalmia with brain and digit anomalies, microphthalmia, syndromic type 6, syndromic microphthalmia type 6, anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia, anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia, microphthalmia and pituitary anomalies

0 clinical trials for this condition and its sub-types, 0 tagged with Microphthalmia with brain and digit anomalies itself.