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Unilateral aplasia of the mullerian ducts

MedGen UID:
78600
Concept ID:
C0266389
Congenital Abnormality
Synonym: Unicornuate uterus
SNOMED CT: Unicornate uterus (1372004); Uterus unicornis (1372004); Congenital absence of one uterine horn (1372004)
 
HPO: HP:0031909
Monarch Initiative: MONDO:0015831
Orphanet: ORPHA180071

Definition

A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn. [from HPO]

Term Hierarchy

Conditions with this feature

Anophthalmia plus syndrome
MedGen UID:
322166
Concept ID:
C1833339
Disease or Syndrome
A very rare multiple congenital anomaly syndrome with characteristics of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
Acro-renal-mandibular syndrome
MedGen UID:
395425
Concept ID:
C1860166
Disease or Syndrome
A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia.
Chromosome 17q12 deletion syndrome
MedGen UID:
482768
Concept ID:
C3281138
Disease or Syndrome
The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).
Mayer Rokitansky Kuster Hauser syndrome type 1
MedGen UID:
1797978
Concept ID:
C5566555
Disease or Syndrome
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).

Professional guidelines

PubMed

Friedman MA, Aguilar L, Heyward Q, Wheeler C, Caldamone A
J Pediatr Urol 2018 Apr;14(2):144-149. Epub 2018 Feb 9 doi: 10.1016/j.jpurol.2018.01.011. PMID: 29459133

Recent clinical studies

Etiology

Zhang H, Zhang Y, Bao L, Ning G
Clin Radiol 2023 Mar;78(3):168-174. Epub 2022 Oct 20 doi: 10.1016/j.crad.2022.09.119. PMID: 36273955
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
Friedman MA, Aguilar L, Heyward Q, Wheeler C, Caldamone A
J Pediatr Urol 2018 Apr;14(2):144-149. Epub 2018 Feb 9 doi: 10.1016/j.jpurol.2018.01.011. PMID: 29459133
Beheshti M, Churchill BM, Hardy BE, Bailey JD, Weksberg R, Rogan GF
J Urol 1984 May;131(5):968-9. doi: 10.1016/s0022-5347(17)50733-8. PMID: 6708239
Gilsanz V, Cleveland RH, Reid BS
Radiology 1982 Sep;144(4):797-801. doi: 10.1148/radiology.144.4.6213980. PMID: 6213980

Diagnosis

Fontana V, Aboud GS, Sabbaj L
Arch Argent Pediatr 2024 Aug 1;122(4):e202310138. Epub 2024 Jan 18 doi: 10.5546/aap.2023-10138.eng. PMID: 38197594
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
Dias JL, Jogo R
Abdom Imaging 2015 Oct;40(7):2667-82. doi: 10.1007/s00261-015-0421-0. PMID: 25852048
Hořejší J
Endocr Dev 2012;22:251-270. Epub 2012 Jul 25 doi: 10.1159/000331689. PMID: 22846534
Trinidad C, Tardáguila F, Fernández GC, Martínez C, Chávarri E, Rivas I
Eur Radiol 2004 May;14(5):805-8. Epub 2004 Jan 24 doi: 10.1007/s00330-003-2202-3. PMID: 14745581

Therapy

Dracopoulos C, Gembicki M, Scharf JL, Welp A, Berg N, Weichert J
Fetal Pediatr Pathol 2022 Oct;41(5):871-880. Epub 2021 Oct 23 doi: 10.1080/15513815.2021.1994068. PMID: 34689682
Elliott JE, Abduljabar H, Morris M
Fertil Steril 2011 Aug;96(2):e86-9. Epub 2011 Jun 30 doi: 10.1016/j.fertnstert.2011.06.006. PMID: 21718988

Prognosis

Pan HX, Liu P, Duan H, Li PF, Chen RL, Tang L, Luo GN, Chen CL
Eur J Obstet Gynecol Reprod Biol 2018 Sep;228:313-318. Epub 2018 Jul 9 doi: 10.1016/j.ejogrb.2018.07.007. PMID: 30075412
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
Hall-Craggs MA, Kirkham A, Creighton SM
J Pediatr Urol 2013 Feb;9(1):27-32. Epub 2011 Nov 29 doi: 10.1016/j.jpurol.2011.11.003. PMID: 22129802
Tatar A, Ocak Z, Tatar A, Yesilyurt A, Borekci B, Oztas S
Am J Med Genet A 2009 Mar;149A(3):501-4. doi: 10.1002/ajmg.a.32645. PMID: 19213036
Stein AL, March CM
J Reprod Med 1990 Apr;35(4):411-4. PMID: 2352233

Clinical prediction guides

Sinopidis X, Kostopoulou E, Rojas-Gil AP, Panagidis A, Kourea E, Skiadopoulos S, Georgiou G, Spiliotis BE
J Pediatr Endocrinol Metab 2021 Oct 26;34(10):1247-1255. Epub 2021 Jul 16 doi: 10.1515/jpem-2021-0240. PMID: 34265880
Mooren ERM, Cleypool CGJ, de Kort LMO, Goverde AJ, Dik P
J Pediatr Adolesc Gynecol 2021 Oct;34(5):681-685. Epub 2021 May 12 doi: 10.1016/j.jpag.2021.04.013. PMID: 33991657
Morabito G, Daidone A, Murru F, Iaquinto M, Faleschini E, Barbi E, Cozzi G
Ital J Pediatr 2020 Apr 23;46(1):51. doi: 10.1186/s13052-020-0811-y. PMID: 32326964Free PMC Article
Yazawa H, Yabe M, Endo S, Hayashi S
Fukushima J Med Sci 2010 Jun;56(1):44-9. doi: 10.5387/fms.56.44. PMID: 21485655
Furuya S, Ogura H, Saitoh N, Tsukamoto T, Kumamoto Y, Tanaka Y
Int J Urol 1999 Nov;6(11):539-47; discussion 548. doi: 10.1046/j.1442-2042.1999.611110.x. PMID: 10585119

Recent systematic reviews

Luvero D, Plotti F, Capriglione S, Miranda A, Lopez S, Scaletta G, Dell'anna A, Angioli R
Minerva Ginecol 2017 Feb;69(1):35-40. Epub 2016 Oct 11 doi: 10.23736/S0026-4784.16.03920-4. PMID: 28116887

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