U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital uterine anomaly

MedGen UID:
78598
Concept ID:
C0266383
Congenital Abnormality
Synonyms: Abnormality of the uterus; Uterine anomalies
SNOMED CT: Congenital anomaly of uterus (37849005); Congenital uterine anomaly (37849005); Anomalous uterus (37849005); Congenital abnormal uterus (37849005)
 
HPO: HP:0000130
Monarch Initiative: MONDO:0008635
OMIM®: 192000

Definition

An abnormality of the uterus. [from HPO]

Clinical features

From HPO
Congenital uterine anomaly
MedGen UID:
78598
Concept ID:
C0266383
Congenital Abnormality
An abnormality of the uterus.
Bicornuate uterus
MedGen UID:
78599
Concept ID:
C0266387
Congenital Abnormality
The presence of a bicornuate uterus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital uterine anomaly

Conditions with this feature

11p partial monosomy syndrome
MedGen UID:
64512
Concept ID:
C0206115
Disease or Syndrome
PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral problems.
Congenital uterine anomaly
MedGen UID:
78598
Concept ID:
C0266383
Congenital Abnormality
An abnormality of the uterus.
Meckel syndrome, type 1
MedGen UID:
811346
Concept ID:
C3714506
Disease or Syndrome
Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.
Renal hypodysplasia/aplasia 3
MedGen UID:
1626497
Concept ID:
C4540497
Congenital Abnormality
RHDA3 is an autosomal dominant disorder characterized by abnormal kidney development beginning in utero. The phenotype is highly variable, even within families, and there is evidence for incomplete penetrance. Some affected individuals have bilateral renal agenesis, which is usually fatal in utero or in the perinatal period, whereas others may have unilateral agenesis that is compatible with life, or milder manifestations, such as vesicoureteral reflux (VUR). Female mutation carriers may also have uterine or ovarian abnormalities, including uterovaginal and ovarian agenesis. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Brophy et al., 2017, Sanna-Cherchi et al., 2017, and Herlin et al., 2019). For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830).

Professional guidelines

PubMed

Seyhan A, Ertas S, Urman B
Reprod Biomed Online 2021 Sep;43(3):515-522. Epub 2021 Jun 16 doi: 10.1016/j.rbmo.2021.06.003. PMID: 34281787

Recent clinical studies

Etiology

Rikken JFW, Kowalik CR, Emanuel MH, Bongers MY, Spinder T, Jansen FW, Mulders AGMGJ, Padmehr R, Clark TJ, van Vliet HA, Stephenson MD, van der Veen F, Mol BWJ, van Wely M, Goddijn M
Hum Reprod 2021 Apr 20;36(5):1260-1267. doi: 10.1093/humrep/deab037. PMID: 33793794Free PMC Article
Lovelace D
J Midwifery Womens Health 2016 Jul;61(4):501-6. Epub 2016 Mar 18 doi: 10.1111/jmwh.12423. PMID: 26990544
Bailey AP, Jaslow CR, Kutteh WH
Womens Health (Lond) 2015 Mar;11(2):161-7. doi: 10.2217/whe.14.81. PMID: 25776290
Venetis CA, Papadopoulos SP, Campo R, Gordts S, Tarlatzis BC, Grimbizis GF
Reprod Biomed Online 2014 Dec;29(6):665-83. Epub 2014 Sep 21 doi: 10.1016/j.rbmo.2014.09.006. PMID: 25444500
Fox NS, Roman AS, Stern EM, Gerber RS, Saltzman DH, Rebarber A
J Matern Fetal Neonatal Med 2014 Jun;27(9):949-53. Epub 2013 Nov 26 doi: 10.3109/14767058.2013.847082. PMID: 24050215

Diagnosis

Mondal R, Bhave P
Int J Gynaecol Obstet 2023 Aug;162(2):409-432. Epub 2023 Feb 7 doi: 10.1002/ijgo.14681. PMID: 36656754
Tellum T, Bracco B, De Braud LV, Knez J, Ashton-Barnett R, Amin T, Chaggar P, Jurkovic D
Ultrasound Obstet Gynecol 2023 Jan;61(1):99-108. doi: 10.1002/uog.26073. PMID: 36099518Free PMC Article
Seyhan A, Ertas S, Urman B
Reprod Biomed Online 2021 Sep;43(3):515-522. Epub 2021 Jun 16 doi: 10.1016/j.rbmo.2021.06.003. PMID: 34281787
Ridout AE, Ibeto LA, Ross GN, Cook JR, Sykes L, David AL, Seed PT, Tribe RM, Bennett PR, Terzidou V, Shennan AH, Chandiramani M; collaborators, Brown RG, Chatfield S, Sadeh D
Am J Obstet Gynecol 2019 Oct;221(4):341.e1-341.e9. Epub 2019 May 24 doi: 10.1016/j.ajog.2019.05.032. PMID: 31132343
Lovelace D
J Midwifery Womens Health 2016 Jul;61(4):501-6. Epub 2016 Mar 18 doi: 10.1111/jmwh.12423. PMID: 26990544

Therapy

Rikken JFW, Kowalik CR, Emanuel MH, Bongers MY, Spinder T, Jansen FW, Mulders AGMGJ, Padmehr R, Clark TJ, van Vliet HA, Stephenson MD, van der Veen F, Mol BWJ, van Wely M, Goddijn M
Hum Reprod 2021 Apr 20;36(5):1260-1267. doi: 10.1093/humrep/deab037. PMID: 33793794Free PMC Article
Coelho Neto MA, Ludwin A, Petraglia F, Martins WP
Ultrasound Obstet Gynecol 2021 Mar;57(3):366-377. doi: 10.1002/uog.23108. PMID: 32898287
Paradisi R, Barzanti R, Fabbri R
Curr Opin Obstet Gynecol 2014 Aug;26(4):295-301. doi: 10.1097/GCO.0000000000000077. PMID: 24978851
Fox NS, Roman AS, Stern EM, Gerber RS, Saltzman DH, Rebarber A
J Matern Fetal Neonatal Med 2014 Jun;27(9):949-53. Epub 2013 Nov 26 doi: 10.3109/14767058.2013.847082. PMID: 24050215
Chan YY, Jayaprakasan K, Tan A, Thornton JG, Coomarasamy A, Raine-Fenning NJ
Ultrasound Obstet Gynecol 2011 Oct;38(4):371-82. doi: 10.1002/uog.10056. PMID: 21830244

Prognosis

Fedele F, Bulfoni A, Parazzini F, Levi-Setti PE, Busnelli A
Arch Gynecol Obstet 2024 Nov;310(5):2315-2332. Epub 2024 Sep 4 doi: 10.1007/s00404-024-07666-0. PMID: 39227392
Abe J, Nasu T, Noro A, Tsubaki J
J Med Case Rep 2024 Apr 26;18(1):209. doi: 10.1186/s13256-024-04524-0. PMID: 38664817Free PMC Article
Ridout AE, Ibeto LA, Ross GN, Cook JR, Sykes L, David AL, Seed PT, Tribe RM, Bennett PR, Terzidou V, Shennan AH, Chandiramani M; collaborators, Brown RG, Chatfield S, Sadeh D
Am J Obstet Gynecol 2019 Oct;221(4):341.e1-341.e9. Epub 2019 May 24 doi: 10.1016/j.ajog.2019.05.032. PMID: 31132343
Fox NS, Roman AS, Stern EM, Gerber RS, Saltzman DH, Rebarber A
J Matern Fetal Neonatal Med 2014 Jun;27(9):949-53. Epub 2013 Nov 26 doi: 10.3109/14767058.2013.847082. PMID: 24050215
Makino T, Umeuchi M, Nakada K, Nozawa S, Iizuka R
Int J Fertil 1992 May-Jun;37(3):167-70. PMID: 1355763

Clinical prediction guides

Bean E, Naftalin J, Horne A, Saridogan E, Cutner A, Jurkovic D
Ultrasound Obstet Gynecol 2022 Jan;59(1):107-113. doi: 10.1002/uog.24756. PMID: 34435713
Ridout AE, Ibeto LA, Ross GN, Cook JR, Sykes L, David AL, Seed PT, Tribe RM, Bennett PR, Terzidou V, Shennan AH, Chandiramani M; collaborators, Brown RG, Chatfield S, Sadeh D
Am J Obstet Gynecol 2019 Oct;221(4):341.e1-341.e9. Epub 2019 May 24 doi: 10.1016/j.ajog.2019.05.032. PMID: 31132343
Ludwin A, Ludwin I, Coelho Neto MA, Nastri CO, Bhagavath B, Lindheim SR, Martins WP
Ultrasound Obstet Gynecol 2019 Dec;54(6):800-814. doi: 10.1002/uog.20291. PMID: 30977223
Prior M, Richardson A, Asif S, Polanski L, Parris-Larkin M, Chandler J, Fogg L, Jassal P, Thornton JG, Raine-Fenning NJ
Ultrasound Obstet Gynecol 2018 Jan;51(1):110-117. doi: 10.1002/uog.18935. PMID: 29055072
Makino T, Umeuchi M, Nakada K, Nozawa S, Iizuka R
Int J Fertil 1992 May-Jun;37(3):167-70. PMID: 1355763

Recent systematic reviews

Fedele F, Bulfoni A, Parazzini F, Levi-Setti PE, Busnelli A
Arch Gynecol Obstet 2024 Nov;310(5):2315-2332. Epub 2024 Sep 4 doi: 10.1007/s00404-024-07666-0. PMID: 39227392
Panagiotopoulos M, Tseke P, Michala L
Obstet Gynecol 2022 Jan 1;139(1):138-148. doi: 10.1097/AOG.0000000000004627. PMID: 34856567
Coelho Neto MA, Ludwin A, Petraglia F, Martins WP
Ultrasound Obstet Gynecol 2021 Mar;57(3):366-377. doi: 10.1002/uog.23108. PMID: 32898287
Chan YY, Jayaprakasan K, Tan A, Thornton JG, Coomarasamy A, Raine-Fenning NJ
Ultrasound Obstet Gynecol 2011 Oct;38(4):371-82. doi: 10.1002/uog.10056. PMID: 21830244

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...