46,XX difference of sex development-anorectal anomalies syndrome

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46,XX difference of sex development-anorectal anomalies syndrome

Synonyms: 46,XX disorder of sex development-anorectal anomalies syndrome

A rare developmental defect during embryogenesis characterized by a normal female karyotype normal ovaries male or ambiguous genitalia urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis) Müllerian duct anomalies (e.g. complete absence of the uterus and vagina bicornuate uterus) and imperforate anus. Additional features may include tracheoesophageal fistula radial aplasia and malrotation of the gut.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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