VACTERL-H
MIM.276950
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
- vertebral
- cardiac
- renal
- limb anomalies
- anal atresia
- tracheo-esophageal fistula
- triphalangeal thumb (#15127761#, #12872824#)
- primary hypothyroidism (#15127761#)
hydrocephalus (VACTERL-H)
Etiology
PTEN mutations in autosomal recessive VACTERL-hydrocephaly syndrome (VACTERL-H syndrome)
References
Lurie IW, Ferencz C. VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community. Am J Med Genet. 1997 May 16;70(2):144-9. PMID: #9128933#