Phenotypes associated with the disease exstrophy-epispadias complex (OMIM:258040, an entry in Online Mendelian Inheritance in Man):
- Labial hypoplasia (HP:0000066, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:258040)
- Rectovaginal fistula (HP:0000143, a Human Phenotype Ontology term): The presence of a fistula between the vagina and the rectum. Evidence: IEA. (OMIM:258040)
- Congenital hip dislocation (HP:0001374, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:258040)
- Anal atresia (HP:0002023, a Human Phenotype Ontology term): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: IEA. (OMIM:258040)
- Tethered cord (HP:0002144, a Human Phenotype Ontology term): During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. Evidence: IEA. (OMIM:258040)
- Absent scrotum (HP:0008707, a Human Phenotype Ontology term): Congenital absence of the scrotum. Evidence: IEA. (OMIM:258040)
- Ambiguous genitalia, female (HP:0000061, a Human Phenotype Ontology term): Ambiguous genitalia in an individual with XX genetic gender. Evidence: IEA. (OMIM:258040)
- Duplicated collecting system (HP:0000081, a Human Phenotype Ontology term): A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. Evidence: IEA. (OMIM:258040)
- Absence of the sacrum (HP:0010305, a Human Phenotype Ontology term): Absence (aplasia) of the sacrum. Evidence: TAS. (OMIM:258040)
- Sacral segmentation defect (HP:0008490, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:258040)
- Hemivertebrae (HP:0002937, a Human Phenotype Ontology term): Absence of one half of the vertebral body. Evidence: IEA. (OMIM:258040)
- Bladder exstrophy (HP:0002836, a Human Phenotype Ontology term): Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. Evidence: IEA. (OMIM:258040)
- Hydrocephalus (HP:0000238, a Human Phenotype Ontology term): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: IEA. (OMIM:258040)
- 11 pairs of ribs (HP:0000878, a Human Phenotype Ontology term): Presence of only 11 pairs of ribs. Evidence: IEA. (OMIM:258040)
- Bifid uterus (HP:0000136, a Human Phenotype Ontology term): The presence of a bifid uterus. Evidence: IEA. (OMIM:258040)
- Sporadic (HP:0003745, a Human Phenotype Ontology term): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: IEA. (OMIM:258040)
- Epispadias (HP:0000039, a Human Phenotype Ontology term): Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias. Evidence: IEA. (OMIM:258040)
- Anteriorly placed anus (HP:0001545, a Human Phenotype Ontology term): Anterior malposition of the anus. Evidence: IEA. (OMIM:258040)
- Ambiguous genitalia, male (HP:0000033, a Human Phenotype Ontology term): Ambiguous genitalia in an individual with XY genetic gender. Evidence: IEA. (OMIM:258040)
- Micropenis (HP:0000054, a Human Phenotype Ontology term): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: IEA. (OMIM:258040)
- Vesicovaginal fistula (HP:0001586, a Human Phenotype Ontology term): The presence of a fistula connecting the urinary bladder to the vagina. Evidence: IEA. (OMIM:258040)
- Talipes equinovarus (HP:0001762, a Human Phenotype Ontology term): 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. Evidence: IEA. (OMIM:258040)
- Myelomeningocele (HP:0002475, a Human Phenotype Ontology term): Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Evidence: IEA. (OMIM:258040)
- Duplicated colon (HP:0005223, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:258040)
- Hydroureter (HP:0000072, a Human Phenotype Ontology term): The distention of the ureter with urine. Evidence: IEA. (OMIM:258040)
- Cloacal exstrophy (HP:0010475, a Human Phenotype Ontology term): 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. Evidence: TAS. (OMIM:258040)
- Chiari malformation (HP:0002308, a Human Phenotype Ontology term): Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. Evidence: IEA. (OMIM:258040)
- Omphalocele (HP:0001539, a Human Phenotype Ontology term): 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. Evidence: TAS. (OMIM:258040)
- Pelvic kidney (HP:0000125, a Human Phenotype Ontology term): A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. Evidence: IEA. (OMIM:258040)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: IEA. (OMIM:258040)
- Intestinal malrotation (HP:0002566, a Human Phenotype Ontology term): 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. Evidence: IEA. (OMIM:258040)
- Renal agenesis (HP:0000104, a Human Phenotype Ontology term): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: IEA. (OMIM:258040)
- Hydronephrosis (HP:0000126, a Human Phenotype Ontology term): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: IEA. (OMIM:258040)