Rokitansky-Kuster-Hauser syndrome (RKH syndrome); Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH syndrome, MRKH anomaly)

Epidemiology

• incidence of approximately 1 in 5000 newborn girls

Pathology

• utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype
• anomalies of the genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities

Genetics

• associated with defects in WNT4

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/277000