List of Systemic Diseases With Ocular Manifestations - Chromosomal Disorders and Genetic Syndromes

Chromosomal Disorders and Genetic Syndromes

  • Cri-du chat syndrome
  • Schmid-Fraccaro syndrome
  • Turner's syndrome
  • Ring-D chromosome
  • Monosomy-G syndrome
  • Trisomy 13 (Patau's syndrome, D-syndrome)
  • Trisomy 18 (Edwards' syndrome, E-syndrome)
  • Trisomy 21 (Down's syndrome, mongolism)
  • Deletion of long arm of chromosome 18
  • Deletion of chromosome 18
  • Ciliopathic genetic syndromes -- A number of widely-variant genetic disorders with occular phenotypes have been identified with genotypical ciliopathy.

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