46,XX disorder of sex development-anorectal anomalies syndrome
Findings
No curated finding names 46,XX disorder of sex development-anorectal anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0017573), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal internal genitaliaHPOHP:0000812
- Very frequent (80% to 99% of cases)
- Anal atresiaHPOHP:0002023
- Very frequent (80% to 99% of cases)
- Female pseudohermaphroditismHPOHP:0010458
- Very frequent (80% to 99% of cases)
- Abnormality of the urethraHPOHP:0000795
- Frequent (30% to 79% of cases)
- HydronephrosisHPOHP:0000126
- Frequent (30% to 79% of cases)
- HydroureterHPOHP:0000072
- Frequent (30% to 79% of cases)
- Multicystic kidney dysplasia
Show the remaining 3
- Intestinal malrotationHPOHP:0002566
- Occasional (5% to 29% of cases)
- Tracheoesophageal fistulaHPOHP:0002575
- Occasional (5% to 29% of cases)
- Urogenital sinus anomalyHPOHP:0100779
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: 46,XX disorder of sex development-anorectal anomalies syndrome
- Also called
- female pseudohermaphroditism-anorectal anomalies syndrome