| Cloacal exstrophy | |
|---|---|
| Other names | Omphalocele-cloacal exstrophy- imperforate anus-spinal defect syndrome |
| Specialty |
Medical genetics
 |
| Complications | Limb deformities, open neural tube defects [1] |
| Treatment | Surgical intervention |
Cloacal exstrophy (EC) is a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed. It often causes the splitting of the bladder, genitalia, and the anus. It is sometimes called OEIS complex. [2]
Diagnostic tests can include ultrasound, voiding cystourethrogram (VCUG), intravenous pyelogram (IVP), nuclear renogram, computerized axial tomography ( CT scan), and magnetic resonance imaging (MRI). [3] Cloacal exstrophy is a rare birth defect, present in 1/200,000 pregnancies and 1/400,000 live births. It is associated with a defect of the ventral body wall and can be caused by inhibited mesodermal migration. [4] The defect can often be comorbid with spinal bifida and kidney abnormalities. [5] Many individuals who are born with XY cloacal exstrophy are assigned female at birth due to the appearance of the external genitalia. [6] [7] Performing genital surgery on intersex infants for cosmetic purposes is considered a human rights violation by the World Health Organization. [8] [9]
See also
References
- ^ Ben‐Neriah, Z.; Withers, S.; Thomas, M.; Toi, A.; Chong, K.; Pai, A.; Velscher, L.; Vero, S.; Keating, S.; Taylor, G; and Chitayat, D. (2007)." OEIS complex: prenatal ultrasound and autopsy findings". Ultrasound Obstet Gynecol, 29: 170-177. https://doi.org/10.1002/uog.3874
- ^ "OMIM Entry - 258040 - OEIS COMPLEX". omim.org. Retrieved 2018-01-29.
- ^ "G/U Imaging:Home". www.meddean.luc.edu. Retrieved 2018-01-29.
- ^ Hassan, Moaied A. (May 2018). "OEIS complex with a vesico-enteric fistula". Journal of Pediatric Surgery Case Reports. 35: 45–47. doi: 10.1016/j.epsc.2018.05.016.
-
^
"Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex". Genetic and Rare Diseases Information Center. US Department of Health & Human Services. Archived from
the original on 2021-01-16. Retrieved 2021-01-14.
There is a high association with other birth defects, especially spina bifida, which occurs in up to 75% of cases. Omphalocele, a defect of the abdominal wall in the region of the umbilicus, is also common, as are kidney abnormalities.
- ^ Myers, C.; Lee, P.A. (March 1, 2004). "Communicating with Parents with Full Disclosure: A Case of Cloacal Extrophy with Genital Ambiguity". Journal of Pediatric Endocrinology and Metabolism. 17 (3): 273–280. doi: 10.1515/JPEM.2004.17.3.273. S2CID 23729036 – via www.degruyter.com.
- ^ Alice D. Dreger; April M. Herndon. "Progress and Politics in the intersex rights movement, Feminist theory in action" (PDF).
- ^ Carpenter, Morgan (December 2018). "Intersex Variations, Human Rights, and the International Classification of Diseases". Health and Human Rights. 20 (2): 205–214. PMC 6293350. PMID 30568414.
- ^ Greenberg, Julie A. (June 2017). "Legal, ethical, and human rights considerations for physicians treating children with atypical or ambiguous genitalia". Seminars in Perinatology. 41 (4): 252–255. doi: 10.1053/j.semperi.2017.03.012. PMID 28478089.
External links
| Cloacal exstrophy | |
|---|---|
| Other names | Omphalocele-cloacal exstrophy- imperforate anus-spinal defect syndrome |
| Specialty |
Medical genetics
|
| Complications | Limb deformities, open neural tube defects [1] |
| Treatment | Surgical intervention |
Cloacal exstrophy (EC) is a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed. It often causes the splitting of the bladder, genitalia, and the anus. It is sometimes called OEIS complex. [2]
Diagnostic tests can include ultrasound, voiding cystourethrogram (VCUG), intravenous pyelogram (IVP), nuclear renogram, computerized axial tomography ( CT scan), and magnetic resonance imaging (MRI). [3] Cloacal exstrophy is a rare birth defect, present in 1/200,000 pregnancies and 1/400,000 live births. It is associated with a defect of the ventral body wall and can be caused by inhibited mesodermal migration. [4] The defect can often be comorbid with spinal bifida and kidney abnormalities. [5] Many individuals who are born with XY cloacal exstrophy are assigned female at birth due to the appearance of the external genitalia. [6] [7] Performing genital surgery on intersex infants for cosmetic purposes is considered a human rights violation by the World Health Organization. [8] [9]
See also
References
- ^ Ben‐Neriah, Z.; Withers, S.; Thomas, M.; Toi, A.; Chong, K.; Pai, A.; Velscher, L.; Vero, S.; Keating, S.; Taylor, G; and Chitayat, D. (2007)." OEIS complex: prenatal ultrasound and autopsy findings". Ultrasound Obstet Gynecol, 29: 170-177. https://doi.org/10.1002/uog.3874
- ^ "OMIM Entry - 258040 - OEIS COMPLEX". omim.org. Retrieved 2018-01-29.
- ^ "G/U Imaging:Home". www.meddean.luc.edu. Retrieved 2018-01-29.
- ^ Hassan, Moaied A. (May 2018). "OEIS complex with a vesico-enteric fistula". Journal of Pediatric Surgery Case Reports. 35: 45–47. doi: 10.1016/j.epsc.2018.05.016.
-
^
"Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex". Genetic and Rare Diseases Information Center. US Department of Health & Human Services. Archived from
the original on 2021-01-16. Retrieved 2021-01-14.
There is a high association with other birth defects, especially spina bifida, which occurs in up to 75% of cases. Omphalocele, a defect of the abdominal wall in the region of the umbilicus, is also common, as are kidney abnormalities.
- ^ Myers, C.; Lee, P.A. (March 1, 2004). "Communicating with Parents with Full Disclosure: A Case of Cloacal Extrophy with Genital Ambiguity". Journal of Pediatric Endocrinology and Metabolism. 17 (3): 273–280. doi: 10.1515/JPEM.2004.17.3.273. S2CID 23729036 – via www.degruyter.com.
- ^ Alice D. Dreger; April M. Herndon. "Progress and Politics in the intersex rights movement, Feminist theory in action" (PDF).
- ^ Carpenter, Morgan (December 2018). "Intersex Variations, Human Rights, and the International Classification of Diseases". Health and Human Rights. 20 (2): 205–214. PMC 6293350. PMID 30568414.
- ^ Greenberg, Julie A. (June 2017). "Legal, ethical, and human rights considerations for physicians treating children with atypical or ambiguous genitalia". Seminars in Perinatology. 41 (4): 252–255. doi: 10.1053/j.semperi.2017.03.012. PMID 28478089.