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Distal duplication 17q

Disease definition

Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.


Classification level: Disorder
  • Synonym(s):
    • Distal trisomy 17q
    • Telomeric duplication 17q
    • Trisomy 17qter
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q92.3
  • OMIM: -
  • UMLS: C4707663
  • MeSH: C536579
  • GARD: -
  • MedDRA: -
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