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46,XX disorder of sex development-anorectal anomalies syndrome

ORPHA: 2973

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with 46,XX disorder of sex development-anorectal anomalies syndrome, sourced from HPO and Orphanet clinical annotations.

Multicystic kidney dysplasiaHydroureterHydronephrosisAbnormality of the urethraAbnormal internal genitaliaOligohydramniosAnal atresiaRespiratory insufficiencyIntestinal malrotationTracheoesophageal fistulaAplasia/Hypoplasia of the radiusRenal hypoplasia/aplasiaFemale pseudohermaphroditismDisplacement of the urethral meatusUrogenital sinus anomaly

Classification & Codes

Orphanet Code

ORPHA:2973
46,XX disorder of sex development-anorectal anomalies syndrome
OrphanetORPHA:2973
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO