VACTERL with hydrocephalus

VACTERL with hydrocephalus is a rare congenital condition that involves multiple body systems. The term VACTERL is an acronym that stands for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. In this specific form of the condition, hydrocephalus (an accumulation of fluid in the brain) is also present. This disorder has been reported to be either uniformly lethal or to cause severe developmental issues. The condition is regarded as a distinct and severe form of the broader VACTERL association. It is thought to be an autosomal recessive anomaly, meaning that it is likely inherited when both parents carry a gene change. While this description provides an overview of the various challenges associated with the disorder, detailed information remains limited due to its rarity.

People with VACTERL with hydrocephalus show a range of congenital anomalies. These include problems with the development of the spine, anus, heart, esophagus, kidneys, and limbs, along with the presence of hydrocephalus. The condition can lead to complex clinical presentations that may require multiple medical evaluations.

VACTERL with hydrocephalus is thought to be caused by a genetic alteration that follows an autosomal recessive pattern. This means that both parents would carry a copy of the gene change, even if they do not show signs of the disorder. There is no information about specific genes involved at this time.

Information about treatment is currently limited for this condition.

According to available information, the prognosis for VACTERL with hydrocephalus can be very poor, as it is described as either uniformly lethal or leading to severe developmental issues. This reflects the serious nature of the anomalies involved.

Information about research is currently limited for this condition.