VACTERL association X-linked

(redirected from VACTERL association X-linked with or without hydrocephalus)

VACTERL association X-linked

A syndrome (OMIM:314390) characterised by vertebral anomalies, anal atresia, cardiac malformations, tracheo-oesophageal fistula, renal anomalies (e.g., urethral atresia with hydronephrosis) and limb defects (e.g., hexadactyly, humeral hypoplasia, radial aplasia and proximally placed thumb) (i.e., VACTERL). Some patients have hydrocephalus.

Molecular pathology
Defects of ZIC3, which encodes a zinc finger protein required in the earliest stages in axial midline development and left-right asymmetry specification, cause X-linked VACTERL association.