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Section Editor: Marilyn J. Siegel, MD

VACTERL-H Syndrome

Journal of Perinatology volume 22, pages 496–498 (2002)Cite this article

Because of the vertebral, radial anomalies and hydrocephalus, a diagnosis of VACTERL-H syndrome was made, probably autosomal recessive in this female patient. The patient underwent closure of the VSD and end-to-end aortic arch anastamosis. An upper gastrointestinal series performed because of vomiting demonstrated malrotation. The patient received a ventriculoperitoneal shunt on the 19th day of life. She also underwent resection of the hypoplastic, pedunculated right thumb. She has been discharged and is doing well at home on digoxin.

VACTERL is a well-known congenital malformation association including vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. The limb anomalies are frequently anomalies of the radial ray. Patients with typical VACTERL anomalies but with associated hydrocephalus appear to form a distinct group genetically and phenotypically.1,2,3,4 This entity has been given the name VACTERL-H or Briard Evans syndrome. This syndrome has occurred in many family clusters and is usually inherited as either an autosomal recessive or X-linked disorder.4 Patients with VACTERL-H syndrome often have bilateral and symmetrical radial ray abnormalities especially radial aplasia, imperforate anus, and genital anomalies, but other anomalies can occur.5 Cleft palate is also occasionally described.4,6 Other anomalies described include pancreatic hypoplasia and agenesis of the corpus callosum.3 An association with branchial cleft anomalies has also been described4 including malformed ears, ear tags, and pits.

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  1. Department of Radiology, Washington University School of Medicine, St. Louis Children's Hospital, 510 South Kingshighway Boulevard, St. Louis, MO, USA

    Thomas E Herman MD & Marilyn J Siegel MD

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  1. Thomas E Herman MD
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  2. Marilyn J Siegel MD
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Section Editor: Marilyn J. Siegel, MD

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Herman, T., Siegel, M. VACTERL-H Syndrome. J Perinatol 22, 496–498 (2002). https://doi.org/10.1038/sj.jp.7210765

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