Mayer-Rokitansky-Kuster-Hauser syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome
Definition
Spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).
Also known as Mayer-Rokitansky-Küster-Hauser Syndrome, MRKH, MRKH syndrome, Mullerian aplasia/dysgenesis, Rokitansky Kuster Hauser syndrome, Rokitansky syndrome — per MONDO