Rare Pediatrics News

Disease Profile

Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Infancy

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ICD-10

Q64.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

OEIS complex; Cloacal exstrophy; Omphalocele cloacal exstrophy imperforate anus spinal defect;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Kidney and Urinary Diseases

Summary

OEIS complex, also known as cloacal exstrophy, is the most severe birth defect within the exstrophy-epispadias complex. It is characterized by Omphalocele, Exstrophy, Imperforate anus and Spinal defects.[1][2] A child with this condition will have the bladder and a portion of the intestines exposed outside the abdomen with the bony pelvis open like a book. In males, the penis is either flat and short or sometimes split. In females, the clitoris is split and there may be two vaginal openings. Also, frequently the intestine is short and the anus is not open (anus imperforate). 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.[3] The defect occurs when the baby is developing inside the uterus during the first trimester of pregnancy, and seems to be due to the rupture of a tissue known as the cloacal membrane which results in the abnormal development of the abdominal wall and other malformations. The timing of the rupture determines the severity of the disorder. The cause for this malformation is unknown. Treatment involves surgical repair of each malformation.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the clitoris
Abnormality of the clit
0000056
Bladder exstrophy
0002836
Cloacal exstrophy
0010475
Hypoplasia of penis
Underdeveloped penis
0008736
Omphalocele
0001539
Vesicoureteral reflux
0000076
30%-79% of people have these symptoms
Abnormality of fibula morphology
Abnormality of the calf bone
0002991
Abnormality of tibia morphology
Abnormality of the shankbone
Abnormality of the shinbone

[ more ]

0002992
Absent foot
0011301
Anal atresia
Absent anus
0002023
Hemivertebrae
Missing part of vertebrae
0002937
Hip dislocation
Dislocated hips
Dislocation of hip

[ more ]

0002827
Intestinal duplication
Bowel duplication
0100668
Intestinal malrotation
0002566
Myelomeningocele
0002475
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
5%-29% of people have these symptoms
Abnormal fallopian tube morphology
0011027
Ectopic kidney
Abnormal kidney location
Displaced kidney

[ more ]

0000086
Horseshoe kidney
Horseshoe kidneys
0000085
Hydroureter
0000072
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney

[ more ]

0008678
Ureterocele
0000070
Ureteropelvic junction obstruction
0000074
Percent of people who have these symptoms is not available through HPO
11 pairs of ribs
0000878
Absence of the sacrum
0010305
Absent scrotum
0008707
Ambiguous genitalia, female
Atypical appearance of female genitals
0000061
Ambiguous genitalia, male
Ambiguous genitalia in males
0000033
Anteriorly placed anus
0001545
Arnold-Chiari malformation
0002308
Bifid uterus
0000136
Congenital hip dislocation
Dislocated hip since birth
0001374
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Duplicated collecting system
0000081
Duplicated colon
0005223
Epispadias
0000039
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hydronephrosis
0000126
Labial hypoplasia
Underdeveloped labia
0000066
Micropenis
Short penis
Small penis

[ more ]

0000054
Pelvic kidney
0000125
Rectovaginal fistula
Abnormal connection between rectum and vagina
0000143
Renal agenesis
Absent kidney
Missing kidney

[ more ]

0000104
Sacral segmentation defect
0008490
Sporadic
No previous family history
0003745
Tethered cord
0002144
Vesicovaginal fistula
0001586

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex. Click on the link to view a sample search on this topic.

References

  1. Cloacal exstrophy. Orphanet. March, 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93929.
  2. Yerkes EB. Exstrophy and Epispadias. Medscape Reference. https://emedicine.medscape.com/article/1014971-overview.
  3. Cloacal exstrophy. Urology Care Foundation. 2016; https://www.urologyhealth.org/urologic-conditions/cloacal-exstrophy.