46,XX difference of sex development-skeletal anomalies syndrome
Synonyms: 46,XX disorder of sex development-skeletal anomalies syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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46,XX difference of sex development-skeletal anomalies syndrome?
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