VACTERL association X-linked with or without hydrocephalus (VACTERLX)

Genetics

• associated with defects in ZIC3 are a cause of VACTERL association X-linked with or without hydrocephalus (VACTERLX, VACTERL-H)
• some cases of VACTERL-H are associated with increased chromosome breakage & rearrangement

Clinical manifestations

• vertebral anomalies
• anal atresia
• cardiac malformations
• tracheoesophageal fistula
• renal anomalies
  • urethral atresia with hydronephrosis
• limb anomalies
  • hexadactyly
  • humeral hypoplasia
  • radial aplasia
  • proximally placed thumb
• some patients may have hydrocephalus

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/314390