{"Name":"Cloacal exstrophy","DiseaseID__c":"GARD:0004080","id":4080,"encodedName":"cloacal-exstrophy","IsDeleted":false,"Disease_Name_Full__c":"Cloacal exstrophy","Xref_IDs__c":"20815007; C0345217; C537748; D000099005; DOID:0080175; HP:0010475; MEDGEN:83377; MONDO:0009774; ORPHA:93929","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009774","Disease_Description__c":"A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.","GARD_Name__c":"Cloacal exstrophy","GARD_Synonym__c":"cloacal exstrophy (disease); exstrophy of cloaca; exstrophy of cloaca sequence; omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome","Curated_Disease_Description_Source__c":"GARD:0004080","Curated_Disease_Description__c":"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. 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. 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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93929","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009774","ORPHANET_ID__c":"ORPHA:93929","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Extrofia cloacal","Spanish_Description_Source__c":"ORPHA:93929","Spanish_Description__c":"Es una importante anomalía congénita, que representa el extremo más grave del espectro del complejo extrofia-epispadias (CEE), caracterizada por onfalocele, extrofia, ano imperforado y defectos espinales (también conocida como complejo OEIS, por sus siglas en inglés), a menudo asociada a otras malformaciones.","Spanish_Disease_Name__c":"extrofia cloacal","Spanish_GARD_Synonym__c":"complejo oeis; síndrome de onfalocele-extrofia cloacal-ano imperforado-defectos espinales","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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. 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. 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.","Curated_Disease_Description_Source__c":"GARD:0004080","GARD_Synonym__c":"cloacal exstrophy (disease); exstrophy of cloaca; exstrophy of cloaca sequence; omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome","Name":"Cloacal exstrophy","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fetal Health Foundation","Website__c":"https://www.fetalhealthfoundation.org/"},{"Account_Name__c":"Pull-thru Network","Website__c":"https://www.pullthrunetwork.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93929"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93929"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0345217","Source__c":"C0345217","Xref__c":"C0345217"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83377","Source__c":"C0345217","Xref__c":"MEDGEN:83377"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537748","Source__c":"MONDO:0009774","Xref__c":"C537748"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080175","Source__c":"MONDO:0009774","Xref__c":"DOID:0080175"},{"URL__c":"https://www.orpha.net/en/disease/detail/93929","Source__c":"C0345217; MONDO:0009774","Xref__c":"ORPHA:93929"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=20815007","Source__c":"C0345217; MONDO:0009774","Xref__c":"20815007"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0010475","Source__c":"C0345217","Xref__c":"HP:0010475"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000099005","Source__c":"C0345217","Xref__c":"D000099005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009774","Source__c":"GARD:0004080","Xref__c":"MONDO:0009774"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100668","HPO_Synonym__c":"Bowel duplication","HPO_Name__c":"Intestinal duplication","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blockage of urine flow from the renal pelvis to the proximal ureter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000074","HPO_Synonym__c":"Pelviureteric junction obstruction; Ureteropelvic junction stenosis","HPO_Name__c":"Ureteropelvic junction obstruction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of one half of the vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002937","HPO_Synonym__c":"Hemi-vertebrae; Hemivertebra; Missing part of vertebrae","HPO_Name__c":"Hemivertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002566","HPO_Synonym__c":"Malrotation","HPO_Name__c":"Intestinal malrotation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The distention of the ureter with urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000072","HPO_Synonym__c":"Dilated ureter; Megaureter; Swelling of ureter; Ureteral dilatation; Wide ureter","HPO_Name__c":"Hydroureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The total absence of the foot, with no bony elements distal to the tibia or fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011301","HPO_Synonym__c":"Absent foot; Aplasia of the foot; Apodia","HPO_Name__c":"Absent foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008736","HPO_Synonym__c":"Underdeveloped penis","HPO_Name__c":"Hypoplasia of penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008678","HPO_Synonym__c":"Absent/small kidney; Absent/underdeveloped kidney; Renal agenesis/hypoplasia; Renal aplasia/hypoplasia","HPO_Name__c":"Renal hypoplasia/aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002475","HPO_Synonym__c":"Meningomyelocele; Spina bifida cystica","HPO_Name__c":"Myelomeningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002023","HPO_Synonym__c":"Absent anus","HPO_Name__c":"Anal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the tibia (shinbone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002992","HPO_Synonym__c":"Abnormality of the shankbone; Abnormality of the shinbone; Abnormality of tibia morphology","HPO_Name__c":"Abnormal tibia morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect in which a kidney is located in an abnormal anatomic position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000086","HPO_Synonym__c":"Abnormal kidney location; Displaced kidney; Ectopic kidneys; Renal ectopia","HPO_Name__c":"Ectopic kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000085","HPO_Synonym__c":"Horseshoe kidney; Horseshoe kidneys","HPO_Name__c":"Horseshoe kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Displacement of the femur from its normal location in the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002827","HPO_Synonym__c":"Dislocated femoral heads; Dislocated hips; Dislocation of hip; Dislocation of the femoral head; Hip dislocation","HPO_Name__c":"Hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the fallopian tube.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011027","HPO_Synonym__c":"Abnormality of the fallopian tube","HPO_Name__c":"Abnormal fallopian tube morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002836","HPO_Synonym__c":"Ectopia vesicae","HPO_Name__c":"Bladder exstrophy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010475","HPO_Name__c":"Cloacal exstrophy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000076","HPO_Synonym__c":"Ureteral reflux; Ureteric reflux; Vesico-ureteral reflux; Vesicoureteric reflux; VUR","HPO_Name__c":"Vesicoureteral reflux","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the calf bone (fibula), one of the two bones of the calf.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002991","HPO_Synonym__c":"Abnormality of fibula morphology; Abnormality of the calf bone","HPO_Name__c":"Abnormal fibula morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002414","HPO_Name__c":"Spina bifida","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the clitoris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000056","HPO_Synonym__c":"Abnormality of the clit; Abnormality of the clitoris","HPO_Name__c":"Abnormal clitoris morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000070","HPO_Name__c":"Ureterocele","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93929","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001539","HPO_Synonym__c":"Exomphalos; Omphalocoele","HPO_Name__c":"Omphalocele","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Gastroenterology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Nephrology","Gastroenterology","Urologist","Pediatrics"],"Account":["Nephrology"]},"synonyms":["cloacal exstrophy (disease)"," exstrophy of cloaca"," exstrophy of cloaca sequence"," omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome"]}