Mayer-Rokitansky-Küster-Hauser syndrome type 2
Findings
No curated finding names Mayer-Rokitansky-Küster-Hauser syndrome type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.
Definition from the Mondo Disease Ontology (MONDO:0010989), read 2026-09-29. CC BY 4.0.
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia/hypoplasia of the uterusHPOHP:0008684
- Very frequent (80% to 99% of cases)
- AzoospermiaHPOHP:0000027
- Very frequent (80% to 99% of cases)
- Bicornuate uterusHPOHP:0000813
- Very frequent (80% to 99% of cases)
- Ectopic kidneyHPOHP:0000086
- Very frequent (80% to 99% of cases)
- Low posterior hairlineHPOHP:0002162
- Very frequent (80% to 99% of cases)
- Renal agenesisHPOHP:0000104
- Very frequent (80% to 99% of cases)
Where it sits
Other names
4 names
Resolves to: Mayer-Rokitansky-Küster-Hauser syndrome type 2
- Also called
- atypical MRKH syndromeMRKH syndrome type 2Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndromeMURCS association