VACTERL-H
MIM.276950
VATER association with hydrocephaly, VACTERL association with hydrocephaly
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)
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