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46,XX disorder of sex development - skeletal anomalies

Orpha number ORPHA2975
Synonym(s) Female pseudohermaphroditism - skeletal anomalies
Prevalence <1 / 1 000 000
Inheritance
  • Unknown
Age of onset No data available
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by primary amenorrhoea, ambiguous external genitalia, and bone abnormalities (hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads, etc.). It has been described in two sisters born to consanguineous parents.


Last update: October 2006

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