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Abnormal vagina morphology

MedGen UID:
343460
Concept ID:
C1856023
Finding
Synonym: Abnormality of the vagina
 
HPO: HP:0000142

Definition

Any structural abnormality of the vagina. [from HPO]

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 issues.
Hydrolethalus syndrome 1
MedGen UID:
343455
Concept ID:
C1856016
Disease or Syndrome
Hydrolethalus-1 (HLS1) is an autosomal recessive lethal malformation syndrome characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia, and polydactyly. Various other features such as cleft lip or palate, club feet, anomalies of the ears, eyes, and nose, keyhole-shaped defect in the occipital bone, abnormal genitalia, and congenital heart and respiratory organ defects have also been observed in affected individuals. Affected individuals are stillborn or die shortly after birth (summary by Mee et al., 2005). Genetic Heterogeneity of Hydrolethalus Syndrome See also HLS2 (614120), caused by mutation in the KIF7 gene (611254) on chromosome 15q26.

Professional guidelines

PubMed

Passos IMPE, Britto RL
Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188. doi: 10.1016/j.tjog.2020.01.003. PMID: 32127135
Azurah AG, Zainuddin AA, Jayasinghe Y
J Reprod Med 2013 Jul-Aug;58(7-8):324-36. PMID: 23947083
Hickey M, Balen A
Hum Reprod Update 2003 Sep-Oct;9(5):493-504. doi: 10.1093/humupd/dmg038. PMID: 14640381

Recent clinical studies

Etiology

Bortoletto P, Romanski PA, Pfeifer SM
Obstet Gynecol 2024 Mar 1;143(3):369-377. Epub 2023 Nov 22 doi: 10.1097/AOG.0000000000005469. PMID: 37989138
Chen N, Song S, Bao X, Zhu L
Front Med 2022 Dec;16(6):859-872. Epub 2022 Dec 23 doi: 10.1007/s11684-022-0969-3. PMID: 36562950
Dietrich JE
J Pediatr Adolesc Gynecol 2022 Apr;35(2):121-126. Epub 2021 Oct 20 doi: 10.1016/j.jpag.2021.10.001. PMID: 34687902
Bischoff A
Semin Pediatr Surg 2016 Apr;25(2):102-7. Epub 2015 Nov 11 doi: 10.1053/j.sempedsurg.2015.11.009. PMID: 26969234
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

Diagnosis

Chen N, Song S, Bao X, Zhu L
Front Med 2022 Dec;16(6):859-872. Epub 2022 Dec 23 doi: 10.1007/s11684-022-0969-3. PMID: 36562950
Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Passos IMPE, Britto RL
Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188. doi: 10.1016/j.tjog.2020.01.003. PMID: 32127135
Gágyor D, Pilka R, Ondrová D, Buláková S
Ceska Gynekol 2019 Summer;84(4):283-288. PMID: 31818111
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):396-402. Epub 2014 Sep 11 doi: 10.1016/j.jpag.2014.09.001. PMID: 25438708

Therapy

Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Mendling W
Adv Exp Med Biol 2016;902:83-93. doi: 10.1007/978-3-319-31248-4_6. PMID: 27161352
Suhag A, Berghella V
Obstet Gynecol Clin North Am 2015 Jun;42(2):241-54. Epub 2015 Mar 10 doi: 10.1016/j.ogc.2015.01.003. PMID: 26002164
Reichman O, Sobel J
Best Pract Res Clin Obstet Gynaecol 2014 Oct;28(7):1042-50. Epub 2014 Jul 17 doi: 10.1016/j.bpobgyn.2014.07.003. PMID: 25132275
Ozkan O, Erman Akar M, Ozkan O, Doğan NU
Ann Plast Surg 2011 Jun;66(6):673-8. doi: 10.1097/SAP.0b013e3181edd50c. PMID: 21372677

Prognosis

Pfeifer SM, Attaran M, Goldstein J, Lindheim SR, Petrozza JC, Rackow BW, Siegelman E, Troiano R, Winter T, Zuckerman A, Ramaiah SD
Fertil Steril 2021 Nov;116(5):1238-1252. doi: 10.1016/j.fertnstert.2021.09.025. PMID: 34756327
Piessens S, Edwards A
J Minim Invasive Gynecol 2020 Feb;27(2):265-266. Epub 2019 Sep 4 doi: 10.1016/j.jmig.2019.08.027. PMID: 31493569
Suhag A, Berghella V
Obstet Gynecol Clin North Am 2015 Jun;42(2):241-54. Epub 2015 Mar 10 doi: 10.1016/j.ogc.2015.01.003. PMID: 26002164
Shetty MV, Bhaskaran A, Sen TK
Afr J Paediatr Surg 2011 May-Aug;8(2):215-7. doi: 10.4103/0189-6725.86066. PMID: 22005369
Creasman WT
Curr Opin Obstet Gynecol 2005 Feb;17(1):71-6. doi: 10.1097/00001703-200502000-00013. PMID: 15711415

Clinical prediction guides

Chen N, Hao L, Zhang Z, Qin C, Jie Z, Pan H, Duan J, Huang X, Zhang Y, Gao H, Lu R, Sun T, Yang H, Shi J, Liang M, Guo J, Gao Q, Zhao X, Dou Z, Xiao L, Zhang S, Jin X, Xu X, Yang H, Wang J, Jia H, Zhang T, Kristiansen K, Chen C, Zhu L
Nat Commun 2024 Sep 6;15(1):7808. doi: 10.1038/s41467-024-52102-1. PMID: 39242555Free PMC Article
Pfeifer SM, Attaran M, Goldstein J, Lindheim SR, Petrozza JC, Rackow BW, Siegelman E, Troiano R, Winter T, Zuckerman A, Ramaiah SD
Fertil Steril 2021 Nov;116(5):1238-1252. doi: 10.1016/j.fertnstert.2021.09.025. PMID: 34756327
Piessens S, Edwards A
J Minim Invasive Gynecol 2020 Feb;27(2):265-266. Epub 2019 Sep 4 doi: 10.1016/j.jmig.2019.08.027. PMID: 31493569
Cetin C, Soysal C, Khatib G, Urunsak IF, Cetin T
J Obstet Gynaecol Res 2016 Aug;42(8):1013-5. Epub 2016 Apr 20 doi: 10.1111/jog.13010. PMID: 27094100
Suhag A, Berghella V
Obstet Gynecol Clin North Am 2015 Jun;42(2):241-54. Epub 2015 Mar 10 doi: 10.1016/j.ogc.2015.01.003. PMID: 26002164

Recent systematic reviews

Georgas K, Belgrano V, Andreasson M, Elander A, Selvaggi G
J Plast Surg Hand Surg 2018 Oct;52(5):265-273. Epub 2018 Jul 24 doi: 10.1080/2000656X.2018.1482220. PMID: 30039726
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):396-402. Epub 2014 Sep 11 doi: 10.1016/j.jpag.2014.09.001. PMID: 25438708
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):386-95. Epub 2014 Jul 17 doi: 10.1016/j.jpag.2014.07.001. PMID: 25438707
Kondo W, Ribeiro R, Tsumanuma FK, Zomer MT
J Minim Invasive Gynecol 2012 Mar-Apr;19(2):176-82. Epub 2012 Jan 15 doi: 10.1016/j.jmig.2011.12.012. PMID: 22245040
Meredith SM, Sanchez-Ramos L, Kaunitz AM
Am J Obstet Gynecol 2009 Jul;201(1):107.e1-6. Epub 2009 Apr 26 doi: 10.1016/j.ajog.2009.03.021. PMID: 19398089

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