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Mayer-Rokitansky-Küster-Hauser syndrome type 2(MURCS)

MedGen UID:
931237
•Concept ID:
C4305568
•
Disease or Syndrome
Synonyms: Klippel-feil deformity, conductive deafness, and absent vagina; MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME, TYPE II; MRKH, TYPE II; Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies; MURCS association
SNOMED CT: Mayer-Rokitansky-Küster-Hauser syndrome type 2 (717705004); Atypical MRKH (Mayer Rokitansky Kuster Hauser) syndrome (717705004); Mullerian duct aplasia, renal dysplasia, cervical somite anomalies syndrome (717705004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0010989
OMIM®: 601076
Orphanet: ORPHA2578

Definition

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), 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 (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used. [from ORDO]

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
•Concept ID:
C0004509
•
Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
See: Feature record | Search on this feature
Ectopic kidney
MedGen UID:
68661
•Concept ID:
C0238207
•
Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
See: Feature record | Search on this feature
Unilateral renal agenesis
MedGen UID:
75607
•Concept ID:
C0266294
•
Congenital Abnormality
A unilateral form of agenesis of the kidney.
See: Feature record | Search on this feature
Bicornuate uterus
MedGen UID:
78599
•Concept ID:
C0266387
•
Congenital Abnormality
The presence of a bicornuate uterus.
See: Feature record | Search on this feature
Uterine hypoplasia
MedGen UID:
120575
•Concept ID:
C0266399
•
Congenital Abnormality
Underdevelopment of the uterus.
See: Feature record | Search on this feature
Renal agenesis
MedGen UID:
154237
•Concept ID:
C0542519
•
Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
See: Feature record | Search on this feature
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
See: Feature record | Search on this feature
Conductive hearing impairment
MedGen UID:
9163
•Concept ID:
C0018777
•
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
See: Feature record | Search on this feature
Cerebellar cyst
MedGen UID:
339835
•Concept ID:
C1847762
•
Finding
See: Feature record | Search on this feature
Micrognathia
MedGen UID:
44428
•Concept ID:
C0025990
•
Congenital Abnormality
Developmental hypoplasia of the mandible.
See: Feature record | Search on this feature
Congenital elevation of scapula
MedGen UID:
56291
•Concept ID:
C0152438
•
Congenital Abnormality
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
See: Feature record | Search on this feature
Abnormal rib morphology
MedGen UID:
330763
•Concept ID:
C1842083
•
Anatomical Abnormality
An anomaly of the rib.
See: Feature record | Search on this feature
Abnormality of the vertebral column
MedGen UID:
892426
•Concept ID:
C4021789
•
Anatomical Abnormality
Any abnormality of the vertebral column.
See: Feature record | Search on this feature
Cleft upper lip
MedGen UID:
40327
•Concept ID:
C0008924
•
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
See: Feature record | Search on this feature
Facial asymmetry
MedGen UID:
266298
•Concept ID:
C1306710
•
Finding
An abnormal difference between the left and right sides of the face.
See: Feature record | Search on this feature
Cleft palate
MedGen UID:
756015
•Concept ID:
C2981150
•
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

Curated

Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.
Morcel K, Dallapiccola B, Pasquier L, Watrin T, Bernardini L, Guerrier D
Eur J Hum Genet 2012 Feb;20(2) Epub 2011 Sep 7 doi: 10.1038/ejhg.2011.158. PMID: 21897448Free PMC Article

Recent clinical studies

Etiology

Recurrent human 16p11.2 microdeletions in type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients in Chinese Han population.
Su K, Liu H, Ye X, Jin H, Xie Z, Yang C, Zhou D, Huang H, Wu Y
Mol Genet Genomic Med 2024 Jan;12(1):e2280. Epub 2023 Oct 3 doi: 10.1002/mgg3.2280. PMID: 37789575Free PMC Article
Mayer-Rokitansky-Küster-Hauser Syndrome: MR Manifestations Of Typical And Atypical Cases.
Khan N, Khaliq M, Azam MM, Raja R
J Ayub Med Coll Abbottabad 2021 Oct-Dec;33(Suppl 1)(4):S711-S716. PMID: 35077614
Clinical characteristics of 1,055 Chinese patients with Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide multicentric study.
Chen N, Pan H, Luo G, Wang P, Xie Z, Hua K, Luo X, Huang X, Liu Q, Sun L, Hu W, Tao G, Zhao S, Wu N, Zhu L
Fertil Steril 2021 Aug;116(2):558-565. Epub 2021 Mar 19 doi: 10.1016/j.fertnstert.2021.02.033. PMID: 33745726
Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.
Williams LS, Demir Eksi D, Shen Y, Lossie AC, Chorich LP, Sullivan ME, Phillips JA 3rd, Erman M, Kim HG, Alper OM, Layman LC
Fertil Steril 2017 Jul;108(1):145-151.e2. Epub 2017 Jun 7 doi: 10.1016/j.fertnstert.2017.05.017. PMID: 28600106Free PMC Article
Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome.
Rall K, Eisenbeis S, Henninger V, Henes M, Wallwiener D, Bonin M, Brucker S
J Pediatr Adolesc Gynecol 2015 Oct;28(5):362-8. Epub 2014 Nov 11 doi: 10.1016/j.jpag.2014.07.019. PMID: 26148785

Diagnosis

Recurrent human 16p11.2 microdeletions in type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients in Chinese Han population.
Su K, Liu H, Ye X, Jin H, Xie Z, Yang C, Zhou D, Huang H, Wu Y
Mol Genet Genomic Med 2024 Jan;12(1):e2280. Epub 2023 Oct 3 doi: 10.1002/mgg3.2280. PMID: 37789575Free PMC Article
Renal abnormalities associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Dorosiev E, Muzikadzhieva G, Mladenov B, Stoev I, Velev D
Folia Med (Plovdiv) 2021 Oct 31;63(5):815-818. doi: 10.3897/folmed.63.e63325. PMID: 35851218
Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.
Kapczuk K, Kędzia W
Int J Mol Sci 2021 Oct 25;22(21) doi: 10.3390/ijms222111495. PMID: 34768925Free PMC Article
Mayer-Rokitansky-Küster-Hauser syndrome as an interdisciplinary problem.
Liszewska-Kapłon M, Strózik M, Kotarski Ł, Bagłaj M, Hirnle L
Adv Clin Exp Med 2020 Apr;29(4):505-511. doi: 10.17219/acem/118850. PMID: 32348039
Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome.
Rall K, Eisenbeis S, Henninger V, Henes M, Wallwiener D, Bonin M, Brucker S
J Pediatr Adolesc Gynecol 2015 Oct;28(5):362-8. Epub 2014 Nov 11 doi: 10.1016/j.jpag.2014.07.019. PMID: 26148785

Therapy

Modified human uterus transplantation using ovarian veins for venous drainage: the first report of surgically successful robotic-assisted uterus procurement and follow-up for 12 months.
Wei L, Xue T, Tao KS, Zhang G, Zhao GY, Yu SQ, Cheng L, Yang ZX, Zheng MJ, Li F, Wang Q, Han Y, Shi YQ, Dong HL, Lu ZH, Wang Y, Yang H, Ma XD, Liu SJ, Liu HX, Xiong LZ, Chen BL
Fertil Steril 2017 Aug;108(2):346-356.e1. doi: 10.1016/j.fertnstert.2017.05.039. PMID: 28778283
Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han.
Ma W, Li Y, Wang M, Li H, Su T, Li Y, Wang S
PLoS One 2015;10(6):e0130202. Epub 2015 Jun 15 doi: 10.1371/journal.pone.0130202. PMID: 26075712Free PMC Article
Laparoscopic vaginoplasty using a sigmoid graft through the umbilical single-incision hybrid transperineal approach: our initial experience.
Li S, Sun C, Shi B, Li M, Liu L
J Laparoendosc Adv Surg Tech A 2014 May;24(5):354-8. Epub 2014 Jan 17 doi: 10.1089/lap.2013.0158. PMID: 24438220
Intestinal vaginoplasty: seven years' experience of a tertiary center.
Karateke A, Haliloglu B, Parlak O, Cam C, Coksuer H
Fertil Steril 2010 Nov;94(6):2312-5. Epub 2010 Feb 20 doi: 10.1016/j.fertnstert.2010.01.004. PMID: 20172515

Prognosis

Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
Brakta S, Du Q, Chorich LP, Hawkins ZA, Sullivan ME, Ko EK, Kim HG, Knight J, Taylor HS, Friez M, Phillips JA 3rd, Layman LC
Mol Cell Endocrinol 2024 Aug 1;589:112237. Epub 2024 Apr 8 doi: 10.1016/j.mce.2024.112237. PMID: 38599276
Variants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Chu C, Li L, Li S, Zhou Q, Zheng P, Zhang YD, Duan AH, Lu D, Wu YM
Hum Genomics 2022 Mar 31;16(1):10. doi: 10.1186/s40246-022-00385-0. PMID: 35361250Free PMC Article
Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea.
Gündoğdu E, Emekli E, Oğuzman M, Kebapçı M
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):995-1003. doi: 10.1515/jpem-2019-0223. PMID: 31369396
Obstructive Müllerian Anomalies in Menstruating Adolescent Girls: A Report of 22 Cases.
Kapczuk K, Friebe Z, Iwaniec K, Kędzia W
J Pediatr Adolesc Gynecol 2018 Jun;31(3):252-257. Epub 2017 Oct 10 doi: 10.1016/j.jpag.2017.09.013. PMID: 29030159
Congenital malformations and other comorbidities in 125 women with Mayer-Rokitansky-Küster-Hauser syndrome.
Kapczuk K, Iwaniec K, Friebe Z, Kędzia W
Eur J Obstet Gynecol Reprod Biol 2016 Dec;207:45-49. Epub 2016 Oct 26 doi: 10.1016/j.ejogrb.2016.10.014. PMID: 27825026

Clinical prediction guides

Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
Brakta S, Du Q, Chorich LP, Hawkins ZA, Sullivan ME, Ko EK, Kim HG, Knight J, Taylor HS, Friez M, Phillips JA 3rd, Layman LC
Mol Cell Endocrinol 2024 Aug 1;589:112237. Epub 2024 Apr 8 doi: 10.1016/j.mce.2024.112237. PMID: 38599276
Variants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Chu C, Li L, Li S, Zhou Q, Zheng P, Zhang YD, Duan AH, Lu D, Wu YM
Hum Genomics 2022 Mar 31;16(1):10. doi: 10.1186/s40246-022-00385-0. PMID: 35361250Free PMC Article
Neovagina Creation: A Novel Improved Laparoscopic Vecchietti Procedure in Patients with Mayer-Rokitansky-Küster-Hauster Syndrome.
Wang YY, Duan H, Zhang XN, Wang S
J Minim Invasive Gynecol 2021 Jan;28(1):82-92. Epub 2020 Apr 10 doi: 10.1016/j.jmig.2020.04.006. PMID: 32283327
Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea.
Gündoğdu E, Emekli E, Oğuzman M, Kebapçı M
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):995-1003. doi: 10.1515/jpem-2019-0223. PMID: 31369396
Vaginal prevalence of human papillomavirus infections in women with uterovaginal aplasia before and after laparoscopically assisted creation of a neovagina: a prospective epidemiological observational study.
Rall KK, Schoenfisch B, Schoeller D, Stefanescu D, Koelle A, Henes M, Huebner M, Taran FA, Seeger H, Iftner A, Iftner T, Brucker SY
BJOG 2019 Jan;126(1):65-72. Epub 2018 Aug 20 doi: 10.1111/1471-0528.15404. PMID: 29992731

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    Curated

    • EuroGenetest, 2011
      Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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