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Distal monosomy 17q

Disease definition

Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).

ORPHA:1597

  • Synonym(s):
    • Distal 17q deletion
    • Monosomy 17qter
    • Telomeric deletion 17q
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 10972
  • MedDRA: -

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