VACTERL association, X-linked, with or without hydrocephalus

VACTERL association, X-linked, with or without hydrocephalus is a rare congenital condition noted in trusted sources such as OMIM and GARD. While detailed descriptions are limited in the available literature, the condition is recognized as having an X-linked inheritance pattern, meaning that the genetic change is found on the X chromosome. The available information also points to an association with the ZIC3 gene, which is known to play a role in early development. The name of the condition indicates that there may be cases with hydrocephalus (a build-up of fluid in the brain) and cases without this feature. Overall, more detailed descriptions and clinical data about this condition are not widely available in the sources used.

Information about symptoms is currently limited for this condition.

The causes of this condition are linked to changes in the ZIC3 gene. Trusted sources indicate that mutations in this gene, which is important for early development, are associated with the condition. However, detailed explanations of how these genetic changes lead to the full spectrum of features are not fully available.

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

Information about the outlook and quality of life for people with this condition is currently limited for this condition.

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