Mayer-Rokitansky-Kuster-Hauser syndrome type 1
MONDO:0010173Mondo
Findings
No curated finding names Mayer-Rokitansky-Kuster-Hauser syndrome type 1 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 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.
Definition from the Mondo Disease Ontology (MONDO:0010173), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset · Third trimester onset
HPO, annotations 2026-09-02
Features
14 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 of the vaginaHPOHP:0003250
- 2 of 2 reported patients
- Aplasia of the upper vaginaHPOHP:0012673
- 1 of 2 reported patients
- Aplasia of the uterusHPOHP:0000151
- 1 of 2 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 2 reported patients
- HematocolposHPOHP:0031923
- 1 of 2 reported patients
- Multicystic kidney dysplasiaHPOHP:0000003
- 1 of 2 reported patients
- Polycystic ovariesHPO
Show the remaining 2
- Unicornuate uterusHPOHP:0031909
- 1 of 2 reported patients
- Abnormal female external genitalia morphologyHPOHP:0000055
- 0 of 2 reported patients
Where it sits
Other names
3 names
Resolves to: Mayer-Rokitansky-Kuster-Hauser syndrome type 1
- Also called
- congenital absence of uterus and vaginaMRKH syndrome type 1Rokitansky sequence