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46,XX disorder of sex development-anorectal anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

46,XX disorder of sex development-anorectal anomalies syndrome

MONDO:0017573

Also known as:female pseudohermaphroditism-anorectal anomalies syndrome

Overview

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.

Diagnosis

Biomarker and diagnostic research for 46,XX disorder of sex development-anorectal anomalies syndrome has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for 46,XX disorder of sex development-anorectal anomalies syndrome.

202 publications have been identified in PubMed for 46,XX disorder of sex development-anorectal anomalies syndrome. Research spans Case Report / Case Series (31%), Review / Meta-Analysis (24%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	62	31%

Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 1:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2973

GARD

Genetic and Rare Diseases Info Center

GARD:18782

Questions for Your Care Team

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46,XX disorder of sex development-anorectal anomalies syndrome

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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