The VACTERL-H association is a rare expanded form of the VATER association that includes cardiac defects, limb defects, and hydrocephalus.
Types
autosomal recessive VACTERL-hydrocephaly syndrome (David-O'Callaghan syndrome) (MIM.276950) (PTEN mutations)
X-linked recessive VACTERL-hydrocephaly syndrome (Hunter-MacMurray syndrome) (MIM.314390) (#9508070#)
Synopsis
VACTERL association
Etiology
PTEN mutations in autosomal recessive VACTERL-hydrocephaly syndrome (VACTERL-H syndrome)