Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Malformation syndrome Synonyms Bakrania-Ragge syndrome MCOPS6 Mikroftalmia syndromiczna typu 6 Zespół Bakrania i Ragge MCOPS6 Syndromic microphthalmia type 6 ORPHA code 139471 OMIM code 607932 ICD10 code Q11.2 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl