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47,XYY syndrome

Disease definition

A rare sex chromosome aneuploidy where males receive an additional Y chromosome, that is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.

ORPHA:8

Classification level: Disorder
  • Synonym(s):
    • Double Y syndrome
    • Jacobs syndrome
    • XYY syndrome
    • Y disomy
  • Prevalence: 1-5 / 10 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: All ages
  • ICD-10: Q98.5
  • ICD-11: LD52.1
  • OMIM: -
  • UMLS: C3266843
  • MeSH: C535317
  • GARD: 5674
  • MedDRA: 10056894

  A summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Polski ()

Detailed information

General public

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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.