Phenotypes associated with the disease Exstrophy-epispadias complex (ORPHA:322):
- Epispadias (HP:0000039): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:322)
- Vesicoureteral reflux (HP:0000076): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:322)
- Bladder exstrophy (HP:0002836): Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:322)
- Abnormal abdominal wall morphology (HP:0004298): The presence of any abnormality affecting the abdominal wall. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:322)
- Abdominal wall defect (HP:0010866): An incomplete closure of the abdominal wall. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:322)
- Cystocele (HP:0100645): Anterior vaginal wall prolapse with bulging of the bladder into the vagina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:322)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Renal duplication (HP:0000075): A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Horseshoe kidney (HP:0000085): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Bifid uterus (HP:0000136): The presence of a bifid uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Abnormal joint morphology (HP:0001367): An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Omphalocele (HP:0001539): 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. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Bladder fistula (HP:0004321): The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Abnormality of the gastrointestinal tract (HP:0011024): An abnormality of the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Abnormal skeletal morphology (HP:0011842): An abnormality of the form, structure, or size of the skeletal system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Bladder duplication (HP:0025489): A congenital anomaly characterized by the presence of two bladders. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Female sexual dysfunction (HP:0030014): A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Absent penis (HP:0030261): Lack of recognizable penile structures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Male sexual dysfunction (HP:0040307): A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Bifid penis (HP:0100599): Two penile structures, separated from the tip to the base of the shaft. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Penoscrotal transposition (HP:0100600): A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:322)
- Cryptorchidism (HP:0000028): 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:322)
- Abnormality of the ureter (HP:0000069): An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:322)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:322)
- Hydrocephalus (HP:0000238): 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:322)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:322)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:322)
- Abnormal forehead morphology (HP:0000290): An anomaly of the forehead. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:322)
- Abnormality of the orbital region (HP:0000315). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:322)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:322)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:322)
- Anal stenosis (HP:0002025): Abnormal narrowing of the anal opening. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:322)
- Spina bifida (HP:0002414): 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. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:322)
- Cloacal exstrophy (HP:0010475): 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. Frequency: Very rare (HP:0040284). (ORPHA:322)
- Abnormal brain morphology (HP:0012443): A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:322)