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VACTERL-H Association and Fanconi Anemia.

B P Alter1, P S Rosenberg

  • 1Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Md., USA.

Molecular Syndromology
|May 9, 2013
PubMed
Summary
This summary is machine-generated.

Fanconi anemia (FA) patients frequently present with VATER association birth defects, particularly renal and limb anomalies. Early identification of FA in VATER patients improves prognosis and enables proactive management.

Keywords:
Birth defectsFanconi anemiaVACTERL-HVATER

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Fanconi anemia (FA) is a rare genetic disorder often associated with congenital anomalies.
  • VATER association is a diagnosis characterized by multiple birth defects, including vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies.
  • Overlap exists between FA and VATER association, necessitating improved diagnostic strategies.

Purpose of the Study:

  • To investigate the frequency and characteristics of VATER association features in Fanconi anemia patients.
  • To identify specific birth defects that can serve as indicators for FA in infants diagnosed with VATER association.
  • To analyze the genotypic distribution and clinical outcomes of FA patients with VATER phenotypes.

Main Methods:

  • A literature review was conducted on 2,245 Fanconi anemia cases reported between 1927 and 2012.
  • Cases with at least three defining features of VATER association were identified and analyzed.
  • Genotype frequencies and clinical outcomes, including survival and malignancy onset, were compared between FA VATER patients and the general FA population.

Main Results:

  • 108 out of 2,245 FA cases (4.8%) exhibited at least three VATER association features.
  • Renal and limb anomalies (radial and/or thumb) were present in 93% of FA VATER cases, significantly higher than in typical VATER patients.
  • Genotype distribution in FA VATER cases differed from the general FA population, with lower FANCA and higher FANCB, FANCD1/BRCA2, and FANCD2 frequencies.
  • FA VATER patients demonstrated a worse prognosis, characterized by shorter median survival and earlier malignancy onset.

Conclusions:

  • The co-occurrence of renal and limb anomalies in infants with VATER association should prompt testing for Fanconi anemia.
  • Early diagnosis of FA in VATER association facilitates timely cancer surveillance and genetic counseling.
  • Understanding the FA VATER phenotype aids in predicting disease severity and guiding patient management.