Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome 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. Disease data Classification Malformation syndrome Synonyms Pseudohermafrodytyzm żeński - wady odbytnicy i odbytu 46,XX disorder of sex development-anorectal anomalies syndrome ORPHA code 2973 OMIM code - ICD10 code Q56.2 ICD11 code LD2F.1Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl