/VACTERL with hydrocephalus

VACTERL with hydrocephalus

Rare Disease

MONDO:0010172

Also Known As

Sujansky-Leonard syndromeVACTERL association with hydrocephalusVACTERL association with hydrocephalyVACTERL hydrocephalyVACTERL-HVater association with hydrocephalusVater association with macrocephaly and ventriculomegalyvertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly

Definition

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.