Home > D. Systemic pathology > Genetic and developmental anomalies > Malformative associations > VACTERL-H

VACTERL-H

MIM.276950

Tuesday 19 April 2005

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