VACTERL association vs CHARGE association
How to tell VACTERL association and CHARGE association apart when a board question makes them look alike.
VACTERL is vertebral, anal, cardiac, tracheoesophageal, renal, and limb defects; CHARGE is coloboma, heart disease, choanal atresia, growth delay, genital anomalies, and ear anomalies.
Side by side
VACTERL association includes vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb defects.
CHARGE association is linked to CHD7 and includes coloboma, heart defects, choanal atresia, growth/development delay, genital anomalies, and ear anomalies.
VACTERL association includes vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb defects.
CHD7 disruption affects neural crest and developmental patterning, producing the CHARGE constellation rather than the vertebral-anal-cardiac-renal-limb pattern of VACTERL.
Vertebral, anal atresia, cardiac, tracheoesophageal fistula, renal, and limb defects; three or more features; normal karyotype.
CHD7 mutation, choanal atresia, coloboma, and ear anomalies support CHARGE.
The repair move
Before naming the answer, force the stem through the separator: VACTERL is vertebral, anal, cardiac, tracheoesophageal, renal, and limb defects; CHARGE is coloboma, heart disease, choanal atresia, growth delay, genital anomalies, and ear anomalies.
Try a free question
CoreA newborn has imperforate anus, hemivertebra at T7-T8, ventricular septal defect, esophageal atresia with tracheoesophageal fistula, horseshoe kidney, and bilateral radial ray defects with thumb hypoplasia. Karyotype is normal. Which association is most likely?
Show answer and explanation
Answer: A. VACTERL association. VACTERL association: Vertebral defects, Anal atresia, Cardiac defects, TracheoEsophageal fistula, Renal anomalies, Limb anomalies. Requires 3+ features for diagnosis. Sporadic non-Mendelian condition; normal karyotype. Identifying one component should prompt search for the others.
Why the other choices are tempting
- B. CHARGE association: Coloboma, Heart defects, Atresia of choanae, Retardation of growth/development, Genital anomalies, Ear anomalies; CHD7 mutation.
- C. Trisomy 18 features rocker-bottom feet, clenched fists with overlapping fingers, micrognathia, severe heart defects with high mortality.
- D. Trisomy 13 features holoprosencephaly, cleft lip/palate, polydactyly, severe CNS defects.
- E. Cornelia de Lange features synophrys, long philtrum, micromelia, intellectual disability from NIPBL/SMC mutations.
Flashcards
Tap a card to flip it.
What clue supports VACTERL association?
Choose VACTERL association when the stem gives this pattern: VACTERL association includes vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb defects.
What clue supports CHARGE association?
Choose CHARGE association when the stem gives this contrasting pattern: CHARGE association includes coloboma, heart defects, choanal atresia, growth/development delay, genital anomalies, and ear anomalies.
Quick answers
What is the fastest way to tell VACTERL association from CHARGE association?
VACTERL is vertebral, anal, cardiac, tracheoesophageal, renal, and limb defects; CHARGE is coloboma, heart disease, choanal atresia, growth delay, genital anomalies, and ear anomalies.
What is the key clue for VACTERL association?
VACTERL association includes vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb defects.
What is the key clue for CHARGE association?
CHARGE association is linked to CHD7 and includes coloboma, heart defects, choanal atresia, growth/development delay, genital anomalies, and ear anomalies.