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Distal duplication 14q

Disease definition

Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.


Classification level: Disorder
  • Synonym(s):
    • Telomeric duplication 14q
    • Trisomy 14qter
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q92.3
  • OMIM: -
  • UMLS: C2931702
  • MeSH: C538034
  • GARD: -
  • MedDRA: -

Detailed information

General public

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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