Baraitser-Winter syndrome 1

Baraitser-Winter syndrome 1 is a rare condition that is classified as a Baraitser-Winter cerebrofrontofacial syndrome caused by a mutation in the ACTB gene. This syndrome is one of several that affect the development of the brain and facial features. The condition has been listed with several synonyms and related terms, reflecting the diverse ways in which it has been described in the medical literature. People with this condition may have a range of physical and developmental features. The definition and associated identifiers emphasize that the underlying cause is a mutation in the ACTB gene, which is central to the diagnosis and understanding of the disease.

Information about symptoms is limited; however, some of the synonyms associated with this condition mention intellectual disability, epilepsy, and distinctive facial features. These terms suggest that people with this condition may experience challenges in development and have characteristic facial or neurological features. More detailed, widely confirmed symptom descriptions are currently limited.

The condition is caused by a mutation in the ACTB gene. This gene is important for normal cell function and development. The specific mutation in ACTB disrupts the normal processes of development, leading to the features seen in Baraitser-Winter syndrome 1.

Information about treatment options and management approaches is currently limited for this condition.

Information about prognosis, outcomes, and quality of life considerations is currently limited for this condition.

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