Baraitser-winter syndrome 2

Baraitser-Winter syndrome 2 is a form of Baraitser-Winter cerebrofrontofacial syndrome. This condition is specifically caused by a mutation in the ACTG1 gene. The disorder is one of several syndromes that affect the brain, face, and other parts of the body, although detailed clinical descriptions and symptoms are not broadly available at this time. Because this condition falls within the spectrum of Baraitser-Winter syndromes, it is recognized by its genetic cause rather than a well-established set of physical symptoms or signs. The term has been associated with multiple names including ACTG1 Baraitser-Winter cerebrofrontofacial syndrome and BRWS2, helping clinicians identify the genetic basis of the disorder.

Information about symptoms is currently limited for this condition.

Baraitser-Winter syndrome 2 is caused by a mutation in the ACTG1 gene. Mutations in this gene are responsible for the unique features associated with this syndrome. This genetic change alters the normal function of the gene, which plays a role in cell structure and function.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.