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Tetrasomy 18p

What is Tetrasomy 18p?

Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.

Other condition names

  • Isochromosome 18p

Inheritance type

Not applicable

Age of Onset

  • Antenatal
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.