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46,XX difference of sex development-skeletal anomalies syndrome

Disease definition

A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972.

ORPHA:2975

Classification level: Disorder
  • Synonym(s):
    • 46,XX disorder of sex development-skeletal anomalies syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: No data available
  • ICD-10: Q56.2
  • OMIM: 264270
  • UMLS: C4518077
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2006) Italiano (2006) Español (2021) Français (2021) Nederlands (2021)

Additional information

Further information on this disease

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Research activities on this disease

Specialised Social Services

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