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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.
 
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.
Ectopic kidney
MedGen UID:
68661
Concept ID:
C0238207
Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
Unilateral renal agenesis
MedGen UID:
75607
Concept ID:
C0266294
Congenital Abnormality
A unilateral form of agenesis of the kidney.
Bicornuate uterus
MedGen UID:
78599
Concept ID:
C0266387
Congenital Abnormality
The presence of a bicornuate uterus.
Uterine hypoplasia
MedGen UID:
120575
Concept ID:
C0266399
Congenital Abnormality
Underdevelopment of the uterus.
Renal agenesis
MedGen UID:
154237
Concept ID:
C0542519
Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
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).
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.
Cerebellar cyst
MedGen UID:
339835
Concept ID:
C1847762
Finding
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
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).
Abnormal rib morphology
MedGen UID:
330763
Concept ID:
C1842083
Anatomical Abnormality
An anomaly of the rib.
Abnormality of the vertebral column
MedGen UID:
892426
Concept ID:
C4021789
Anatomical Abnormality
Any abnormality of the vertebral column.
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.
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
An abnormal difference between the left and right sides of the face.
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).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

Curated

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

Khan N, Khaliq M, Azam MM, Raja R
J Ayub Med Coll Abbottabad 2021 Oct-Dec;33(Suppl 1)(4):S711-S716. PMID: 35077614
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
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
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
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

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
Khan N, Khaliq M, Azam MM, Raja R
J Ayub Med Coll Abbottabad 2021 Oct-Dec;33(Suppl 1)(4):S711-S716. PMID: 35077614
Odhaib SA, Mohammed MJ, Al-Ali AJH, Mansour AA
Sultan Qaboos Univ Med J 2021 Nov;21(4):635-638. Epub 2021 Nov 25 doi: 10.18295/squmj.4.2021.036. PMID: 34888086Free PMC Article
Kapczuk K, Kędzia W
Int J Mol Sci 2021 Oct 25;22(21) doi: 10.3390/ijms222111495. PMID: 34768925Free PMC Article
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

Therapy

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
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
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
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

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
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
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
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
Walch K, Kowarik E, Leithner K, Schätz T, Dörfler D, Wenzl R
Fertil Steril 2011 Aug;96(2):492-497.e1. Epub 2011 Jun 30 doi: 10.1016/j.fertnstert.2011.06.004. PMID: 21718986

Clinical prediction guides

Roth LP, Yu LX, Johnson J, Qu'd D, McCracken K, Simpson BN, Pennesi CM
J Pediatr Adolesc Gynecol 2024 Feb;37(1):67-71. Epub 2023 Sep 11 doi: 10.1016/j.jpag.2023.09.002. PMID: 37704034
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
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
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
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.

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