CHARGE syndrome: neurological features

Evidence-based neurology checklist on charge syndrome: neurological features: Dysmorphic features Short stature Sloping forehead Flattened nasal tip Transesophageal fistula Cleft lip or palate Developmental delay Cranial neuropathies Psychiatric features Coloboma Ear abnormalities Synonym References

Dysmorphic features

  • Short stature
  • Sloping forehead
  • Flattened nasal tip
  • Transesophageal fistula
  • Cleft lip or palate
  • Developmental delay

Cranial neuropathies

Psychiatric features

Coloboma

Ear abnormalities

Synonym

References

References

  1. Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis 2006; 1:34.
  2. Dodé C, Hardelin JP. Kallmann syndrome. Eur J Hum Genet 2009; 17:139-146.

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