Baraitser-Winter cerebrofrontofacial syndrome

Baraitser-Winter cerebrofrontofacial syndrome is a rare malformation syndrome that affects multiple parts of the body. It is marked by distinctive facial features including wide-set eyes (hypertelorism), droopy eyelids (ptosis), a broad bulbous nose, ridged metopic suture, and arched eyebrows. Over time, the face may appear progressively coarser. In addition, people with this condition may have eye abnormalities such as ocular coloboma.

Common features include the characteristic facial dysmorphism, eye problems like coloboma, and brain changes such as pachygyria and band heterotopias. Some people with this condition also develop progressive joint stiffening, intellectual challenges of varying severity, and in some cases, severe epilepsy.

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.