Other Features of CHARGE

Consistent with CHARGE, possibly medically significant, but less helpful in making a diagnosis

Chronic ear problems Lots of infections, fluid in the ears, PE tubes until teens 85%
Sloping shoulders Underdeveloped shoulder muscles, small or missing pectoral muscles, short neck Common
Limb/skeletal Absent thumb, extra fingers, vertebral abnormalities ?
CNS abnormalities Hydrocephalus, seizures, abnormalities seen on MRI or CT Occasional
Thymus or parathyroid abnormality Small or missing thymus, decreased immune system Rare
Omphalocele Omphalocele or umbilical hernia 15%
Nipple anomalies Extra, missing or misplaced nipples Occasional
Hypotonia Low muscle tone 90%
Scoliosis Usually due to low muscle tone Common

What else can look like CHARGE (differential diagnosis)?

  • 22q deletion syndrome (aka VCFS, DiGeorge): can have many of the same medical features. However, the face, hands and ears look different. Special FISH test can diagnose 22q deletion
  • Kabuki syndrome: can have many of the same¬†medical and behavioral features.¬† The eyes and fingertips are different and puberty is early in Kabuki syndrome.
  • VATER/VACTERL association can result in similar medical problems. The ears, face and hand do not look like CHARGE syndrome
  • Chromosome abnormalities. Some chromosome abnormalities can have features which overlap with CHARGE syndrome
  • Retinoic embryopathy: exposure to Accutane during pregnancy can produce similar ears and heart defects – other features are different
  • PAX2 mutations can cause colobomas, hearing loss and rare kidney problems

Medical References:

Vissers ELM, van Ravenswaaij CMA, Admiraal R, Hurst JA, deVries BBA, Janssen IM, van der Vliet WA, Huys EHLPG, de Jong PJ, Hamel BCJ, Shoenmakers EFPM, Brunner HG, Veltman JA, van Kessel AG:. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nature Genetics Online 8 August, 2004.

Blake KD, Davenport SLH, Hall B, Hefner MA, Pagon RA, Williams MS, Lin A, Graham JM: CHARGE Association – An update and review for the primary pediatrician. Clinical Pediatrics 37(3):159-73, 1998.

Pagon PA, Graham JM, Zonana J, Young SL: Congenital heart disease and choanal atresia with multiple anomalies. Journal of Pediatr.99:223-227. 1981.

Other resources

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