Search
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
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 277000
References
OMIM :accession 277000