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Rokitansky sequence(MRKH)

MedGen UID:
Concept ID:
Congenital Abnormality
Synonyms: Mayer Rokitansky Kuster Hauser syndrome type 1; MRKH
SNOMED CT: Rokitansky sequence (8793008); Congenital absence of uterus and vagina (8793008); Mayer-Rokitansky-Kuster syndrome (8793008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
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:
Concept ID:
Source: Orphanet
clinical entity without genetic inheritance.
Monarch Initiative: MONDO:0010173
OMIM®: 277000
Orphanet: ORPHA247775


Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by uterovaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls (Cheroki et al., 2006). The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism (158330) is caused by mutation in the WNT4 gene (603490). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, 191830). [from OMIM]

Clinical features

From HPO
MedGen UID:
Concept ID:
Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
Uterine hypoplasia
MedGen UID:
Concept ID:
Congenital Abnormality
Underdevelopment of the uterus.
Aplasia of the vagina
MedGen UID:
Concept ID:
Aplasia of the vagina.

Term Hierarchy

Professional guidelines


Miao Y, Wen J, Huang L, Wu J, Zhao Z
Biomed Res Int 2018;2018:2369430. Epub 2018 Mar 12 doi: 10.1155/2018/2369430. PMID: 29721502Free PMC Article
Layman LC
Mol Cell Endocrinol 2013 May 6;370(1-2):138-48. Epub 2013 Mar 14 doi: 10.1016/j.mce.2013.02.016. PMID: 23499866Free PMC Article
Nakhal RS, Creighton SM
J Pediatr Adolesc Gynecol 2012 Dec;25(6):352-7. Epub 2011 Aug 27 doi: 10.1016/j.jpag.2011.06.003. PMID: 21872517

Recent clinical studies


van Bever Y, van den Ende JJ, Richieri-Costa A
Am J Med Genet 1992 Nov 15;44(5):683-90. doi: 10.1002/ajmg.1320440530. PMID: 1481833

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