Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Microduplication Xp11.22p11.23 syndrome

Disease definition

Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.


Classification level: Disorder
  • Synonym(s):
    • Dup(X)(p11.22p11.23)
    • Trisomy Xp11.22p11.23
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q99.8
  • OMIM: 300801
  • UMLS: C2749022
  • MeSH: -
  • GARD: 12766
  • MedDRA: -
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.