X-linked dominant Oculofaciocardiodental syndrome and X-linked recessive Lenz microphthalmia
OMIM number: 300166 and No OMIM number
Comments closing date: 09/10/2026
BCOR-related disorders encompass a spectrum of genetic conditions caused by variants in the
BCOR gene, which is located on the X chromosome. When the BCOR gene is working, it
plays a critical role in early development, including the formation of the eyes and several other tissues and organs. Variants in the BCOR gene disrupt this, and cause eye, teeth, heart and skeletal anomalies and learning difficulties. Certain variants in the BCOR gene cause
Oculofaciocardiodental syndrome, which is inherited in an X-linked dominant manner. Females can be born with eye, teeth, heart and skeletal anomalies and learning difficulties. Sadly, males with the condition are not expected to live beyond pregnancy. Other variants in the BCOR gene cause Lenz microphthalmia, which is inherited in an X-linked recessive manner. Males with this condition are significantly affected with eye, skeletal and brain anomalies, and females can be asymptomatic carriers or mildly affected. Unfortunately, there is no cure for these conditions, but some features of the condition can be treated or managed individually.
