Disease name

VACTERL with hydrocephalus
 VACTERL with hydrocephalus

Marker gene

Gene symbol Chromosome location Protein name
FANCB Xp22.2 Fanconi anemia group B protein

Prevalence

<1 / 1 000 000

Inheritance

X 연관 열성, 상염색체 열성

Age of onset

신생아기, 영아기

MIM number

276950
314390

Synonym

Sujansky-Leonard syndrome

Summary

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.