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VACTERL-H Association and Fanconi Anemia
1Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Md., USA.
Molecular Syndromology
|May 9, 2013
Summary
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.
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.
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