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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.
Features include: Cleft palate, Hypoplasia of the uterus, Abnormal rib morphology, and Short stature and 12 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 3 | Cleft palate, Cleft upper lip, Facial asymmetry |
Kidneys and urinary system |
Biomarker and diagnostic research for Mayer-Rokitansky-Küster-Hauser syndrome type 2 has been reported in the published literature.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
No clinical trials have been registered for Mayer-Rokitansky-Küster-Hauser syndrome type 2.
18 publications have been identified in PubMed for Mayer-Rokitansky-Küster-Hauser syndrome type 2. Research spans Case Report / Case Series (65%), Review / Meta-Analysis (12%), and Other (6%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 11 | 65% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:42 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Mayer-Rokitansky-Küster-Hauser syndrome type 2
3 |
Unilateral renal agenesis, Ectopic kidney, Renal agenesis |
Growth and development | 1 | Short stature |
Bones and joints | 1 | Abnormality of the vertebral column |
Ears | 1 | Conductive hearing impairment |
Research summaries
2 |
12% |
Other research | 1 | 6% |
Testing and diagnosis research | 1 | 6% |
Laboratory research | 1 | 6% |
Disease patterns and progression | 1 | 6% |
Shubhankar G (2026). [PMID: 41836605](https://pubmed.ncbi.nlm.nih.gov/41836605/). *Sex Med*. [Other]
AlShammari MF (2026). [PMID: 41938300](https://pubmed.ncbi.nlm.nih.gov/41938300/). *AACE Endocrinol Diabetes*. [Case Report / Case Series]
Vency B (2026). [PMID: 41636313](https://pubmed.ncbi.nlm.nih.gov/41636313/). *Int J Gynaecol Obstet*. [Epidemiology / Natural History]
Schiau C (2026). [PMID: 41515635](https://pubmed.ncbi.nlm.nih.gov/41515635/). *Diagnostics (Basel)*. [Review / Meta-Analysis]
Giampaolino P (2026). [PMID: 40683462](https://pubmed.ncbi.nlm.nih.gov/40683462/). *J Minim Invasive Gynecol*. [Case Report / Case Series]
Goto S (2026). [PMID: 41798453](https://pubmed.ncbi.nlm.nih.gov/41798453/). *Cureus*. [Case Report / Case Series]
Sinha S (2026). [PMID: 41500704](https://pubmed.ncbi.nlm.nih.gov/41500704/). *BMJ Case Rep*. [Case Report / Case Series]
Lin XN (2025). [PMID: 40881014](https://pubmed.ncbi.nlm.nih.gov/40881014/). *World J Clin Cases*. [Case Report / Case Series]
Alioglu H (2025). [PMID: 41123199](https://pubmed.ncbi.nlm.nih.gov/41123199/). *Congenit Anom (Kyoto)*. [Review / Meta-Analysis]
Milczarska N (2025). [PMID: 41473032](https://pubmed.ncbi.nlm.nih.gov/41473032/). *Case Rep Obstet Gynecol*. [Case Report / Case Series]