Orphanet: Xq27.3q28 duplication syndrome

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Xq27.3q28 duplication syndrome

Disease definition

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.


Classification level: Disorder
  • Synonym(s):
    • Dup(X)(q27.3q28)
    • Trisomy Xq27.3-q28
    • Trisomy Xq27.3q28
    • Xq27.3-q28 microduplication syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q99.8
  • OMIM: 300869
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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