Mayer-Rokitansky-Küster-Hauser syndrome
ORPHA:3109· ICD-10 Q51.8
Definition
A rare spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Antenatal