The classic manifestation of bladder exstrophy presents with:

- A defect in the abdominal wall occupied by both the exstrophied bladder as well as a portion of the urethra

- A flattened puborectal sling

- Separation of the pubic symphysis

- Shortening of a pubic rami

- External rotation of the pelvis.

Females frequently have a displaced and narrowed vaginal orifice, a clitoris, and divergent labia.

Bladder exstrophy (also known as ectopia vesicae) is a congenital anomaly that exists along the spectrum of the exstrophy-epispadias complex and most notably involves protrusion of the urinary bladder through a defect in the abdominal wall. Its presentation is variable, often including abnormalities of the bony pelvis, pelvic floor, and genitalia. The underlying embryologic mechanism leading to bladder exstrophy is unknown, though it is thought to be in part due to failed reinforcement of the cloacal membrane by underlying mesoderm.

Symptoms and signs in the newborn can be sepsis, abdominal mass, and respiratory distress. Other abdominopelvic or perineal congenital anomalies frequently prompt radiographic evaluation in the newborn, resulting in a diagnosis of coincident vaginal atresia. Symptoms for vaginal atresia include cyclical abdominal pain, the inability to start having menstrual cycles, a small pouch or dimple where a vaginal opening should be, and pelvic mass when the upper vagina becomes filled with menstrual blood. Signs and symptoms of vaginal atresia or vaginal agenesis can often go unnoticed in females until they reach the age of menstruation. Women may also experience some form of abdominal pain or cramping.

The symptoms of a cystocele may include:

- a vaginal bulge

- the feeling that something is falling out of the vagina

- the sensation of pelvic heaviness or fullness

- difficulty starting a urine stream

- a feeling of incomplete urination

- frequent or urgent urination

- fecal incontinence

- frequent urinary tract infections

A bladder that has dropped from its normal position and into the vagina can cause some forms of incontinence and incomplete emptying of the bladder.

The signs and symptoms of ureterocele in the latter two forms can easily be confused with other medical conditions. Symptoms can include:

- Frequent urinary tract infections

- Pyelonephritis

- Obstructive voiding symptoms

- Urinary retention

- Failure to thrive

- Hematuria

- Cyclic abdominal pain

- Urolithiasis

- Cobra head sign is seen in radiography

- In females: salpingitis, hydrosalpinx with sepsis or torsion. T.O. mass.

Posterior urethral valve (PUV) disorder is an obstructive developmental anomaly in the urethra and genitourinary system of male newborns. A posterior urethral valve is an obstructing membrane in the posterior male urethra as a result of abnormal "in utero" development. It is the most common cause of bladder outlet obstruction in male newborns. The disorder varies in degree, with mild cases presenting late due to milder symptoms. More severe cases can have renal and respiratory failure from lung underdevelopment as result of low amniotic fluid volumes, requiring intensive care and close monitoring. It occurs in about one in 8000 babies.

A ureterocele is a congenital abnormality found in the ureter. In this condition the distal ureter balloons at its opening into the bladder, forming a sac-like pouch. It is most often associated with a duplicated collection system, where two ureters drain their respective kidney instead of one. Simple ureterocele, where the condition involves only a single ureter, represents only twenty percent of cases. Ureterocele affects one in 4,000 individuals, at least four-fifths of whom are female. Patients are frequently Caucasian.

Since the advent of the ultrasound, most ureteroceles are diagnosed prenatally. The pediatric and adult conditions are often found incidentally, i.e. through diagnostic imaging performed for unrelated reasons.

Vaginal atresia can sometimes be diagnosed by physical examination soon after birth. A child with vaginal atresia often has other congenital abnormalities and other tests such as x-ray and tests to evaluate the kidney are done. Findings in adolescents may include abdominal pain, difficulty voiding, and backache, but most present with amenorrhea. Difficulties with sexual intercourse can suggest atresia. In the event that the condition is not caught shortly after birth, vaginal atresia becomes more evident when no menstrual cycle is occurs. If vaginal atresia is suspected by the doctor, a blood test may also be request for any of the previously mentioned syndromes, a magnetic resonance imaging (MRI) test, or an ultrasound. A regular evaluation of children born with an imperforate anus or anorectal malformation should be paired with the assessment of the results from these tests.

Prune-belly triad consists of: Cryptorchidism, abdominal wall defects and genitourinary defects:

- A partial or complete lack of abdominal wall muscles. There may be wrinkly folds of skin covering the abdomen.

- Cryptorchidism (undescended testicles) in males

- Urinary tract abnormality such as unusually large ureters, distended bladder, accumulation and backflow of urine from the bladder to the ureters and the kidneys (vesicoureteral reflux)

Other Symptoms include:

- Frequent urinary tract infections due to the inability to properly expel urine.

- Ventricular septal defect

- Malrotation of the gut

- Club foot

- Later in life, a common symptom is post-ejaculatory discomfort. Most likely a bladder spasm, it lasts about two hours.

- Musculoskeletal abnormalities include pectus excavatum, scoliosis, and congenital joint dislocations including the hip. Diagnosis of prune belly syndrome necessitates a thorough orthopaedic evaluation because of the high prevalence of associated musculoskeletal abnormalities.

There are several forms of imperforate anus and anorectal malformations. The new classification is in relation of the type of associated fistula.

The classical Wingspread classification was in low and high anomalies:

- A low lesion, in which the colon remains close to the skin. In this case, there may be a stenosis (narrowing) of the anus, or the anus may be missing altogether, with the rectum ending in a blind pouch.

- A high lesion, in which the colon is higher up in the pelvis and there is a fistula connecting the rectum and the bladder, urethra or the vagina.

- A persistent cloaca (from the term cloaca, an analogous orifice in reptiles and amphibians), in which the rectum, vagina and urinary tract are joined into a single channel.

Imperforate anus is usually present along with other birth defects—spinal problems, heart problems, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb anomalies are among the possibilities.

Ectopic ureter (or ureteral ectopia) is a medical condition where the ureter, rather than terminating at the urinary bladder, terminates at a different site. In males this site is usually the urethra, in females this is usually the urethra or vagina. It can be associated with renal dysplasia, frequent urinary tract infections, and urinary incontinence (usually continuous drip incontinence). Ectopic ureters are found in 1 of every 2000–4000 patients, and can be difficult to diagnose, but are most often seen on CT scans.

Ectopic ureter is commonly a result of a duplicated renal collecting system, a duplex kidney with 2 ureters. In this case, usually one ureter drains correctly to the bladder, with the duplicated ureter presenting as ectopic.

Imperforate anus is associated with an increased incidence of some other specific anomalies as well, together being called the VACTERL association:

- V – Vertebral anomalies

- A – "Anal atresia"

- C – Cardiovascular anomalies

- T – Tracheoesophageal fistula

- E – Esophageal atresia

- R – Renal (kidney) and/or radial anomalies

- L – Limb defects

Other entities associated with an imperforate anus are trisomies 18 and 21, the cat-eye syndrome (partial trisomy or tetrasomy of a maternally derived number 22 chromosome), Baller-Gerold syndrome, Currarino syndrome, caudal regression syndrome, FG syndrome, Johanson-Blizzard syndrome, McKusick-Kaufman syndrome, Pallister-Hall syndrome, short rib-polydactyly syndrome type 1, Townes-Brocks syndrome, 13q deletion syndrome, urorectal septum malformation sequence, and the OEIS complex (omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects).

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 both male and female genitalia (specifically, the penis and clitoris respectively), and the anus is occasionally sealed.

Cloacal exstrophy is a rare birth defect, present in 1/200,000 pregnancies and 1/400,000 live births.

It is caused by a defect of the ventral body wall—mesodermal migration is inhibited and folding fails.

Despite the similarity of name, an epispadias is not a type of hypospadias, and involves a problem with a different set of embryologic processes.

Women can also have this type of congenital malformation. Epispadias of the female may occur when the urethra develops too far anteriorly, exiting in the clitoris or even more forward. For females, this may not cause difficulty in urination but may cause problems with sexual satisfaction. Frequently, the clitoris is bifurcated at the site of urethral exit, and therefore clitoral sensation is less intense during sexual intercourse due to frequent stimulation during urination. However, with proper stimulation, using either manual or positional techniques, clitoral orgasm is definitely possible.

Prune belly syndrome can result in distention and enlargement of internal organs such as the bladder and intestines. Surgery is often required but will not return the organs to a normal size. Bladder reductions have shown that the bladder will again stretch to its previous size due to lack of muscle. Complications may also arise from enlarged/malformed kidneys, which may result in renal failure and the child's going on dialysis or requiring a kidney transplant. With proper treatment, however, a longer, healthier life is possible.

A cystocele, also known as a prolapsed bladder, is a medical condition in which a woman's bladder bulges into her vagina. Some may have no symptoms. Other may have trouble starting urination, urinary incontinence, or frequent urination. Complications may include recurrent urinary tract infections and urinary retention. Cystocele and a prolapsed urethra often occur together and is called a cystourethrocele. Cycstocele can negatively affect quality of life.

Causes include childbirth, constipation, chronic cough, heavy lifting, hysterectomy, genetics, and being overweight. The underlying mechanism involves weakening of muscles and connective tissue between the bladder and vagina. Diagnosis is often based on symptoms and examination.

If the cystocele causes few symptoms, avoiding heavy lifting or straining may be all that is recommended. In those with more significant symptoms a vaginal pessary, pelvic muscle exercises, or surgery may be recommended. The type of surgery typically done is known as a colporrhaphy. The condition becomes more common with age. About a third of women over the age of 50 are affected to some degree.

Additional findings that may be present in HFGS according to the latest research are:

- Limited metacarpophalangeal flexion of the thumb or limited ability to oppose the thumb and fifth finger

- Hypoplastic thenar eminences

- Medial deviation of the great toe (hallux varus), a useful diagnostic sign when present

- Small great toenail

- Fifth-finger clinodactyly, secondary to a shortened middle phalanx

- Short feet

- Altered dermatoglyphics of the hands; when present, primarily involving distal placement of the axial triradius, lack of thenar or hypothenar patterning, low arches on the thumbs, thin ulnar loops (deficiency of radial loops and whorls), and a greatly reduced ridge count on the fingers

Radiographic findings

- Hypoplasia of the distal phalanx and first metacarpal of the thumbs and great toes

- Pointed distal phalanges of the thumb

- Lack of normal tufting of the distal phalanges of the great toes

- Fusions of the cuneiform to other tarsal bones or trapezium-scaphoid fusion of the carpals

- Short calcaneus

- Occasional bony fusions of the middle and distal phalanges of the second, third, fourth, or fifth toes

- Delayed carpal or tarsal maturation

- Metacarpophalangeal profile reflecting shortening of the first metacarpal, the first and second phalanges, and the second phalanx of the second and fifth digits

Urogenital Defects

Females may have the following:

- Vesicoureteral reflux secondary to ureteric incompetence

- Ectopic ureteral orifices

- Trigonal hypoplasia

- Hypospadiac urethra

- Subsymphyseal epispadias

- Patulous urethra

- Urinary incontinence (related to structural anomalies and weakness of the bladder sphincter muscle)

- Small hymenal opening

- Various degrees of incomplete Müllerian fusion with or without two cervices or a longitudinal vaginal septum

Males may have the following:

- Retrograde ejaculation (related to structural anomalies and weakness of the bladder sphincter muscle)

Posterior urethral obstruction was first classified by H. H. Young in 1919. The "verumontanum", or mountain ridge, is a distinctive landmark in the prostatic urethra, important in the systemic division of posterior valve disorders:

- Type I - Most common type; due to anterior fusing of the "plicae colliculi", mucosal fins extending from the bottom of the verumontanum distally along the prostatic and membranous urethra

- Type II - Least common variant; vertical or longitudinal folds between the verumontanum and proximal prostatic urethra and bladder neck

- Type III - Less common variant; a disc of tissue distal to verumontanum, also theorized to be a developmental anomaly of congenital urogenital remnants in the bulbar urethra

Dewan has suggested that obstruction in the posterior urethra is more appropriately termed congenital obstructions of the posterior urethral membrane (COPUMs), a concept that has come from an in-depth analysis of the historical papers, and evaluation of patients with a prenatal diagnosis that has facilitated video recording of the uninstrumented obstructed urethra. The congenital obstructive lesions in the bulbar urethra, named Type III Valves by Young in 1919, have been eponymously referred to as Cobb's collar or Moorman's ring. For each of the COPUM (Posterior Urethra) and Cobb's (Bulbar Urethra) lesions, the degree of obstruction can be variable, consistent with a variable expression of the embryopathy. The now nearly one hundred year old nomenclature of posterior urethral valves was based on limited radiology and primitive endoscopy, thus a change COPUM or Cobb's has been appropriate.

Most cases involve a small and bifid penis, which requires surgical closure soon after birth, often including a reconstruction of the urethra. Where it is part of a larger exstrophy, not only the urethra but also the bladder (bladder exstrophy) or the entire perineum (cloacal exstrophy) are open and exposed on birth, requiring closure.

Most children with vesicoureteral reflux are asymptomatic. Vesicoureteral reflux may be diagnosed as a result of further evaluation of dilation of the kidney or ureters draining urine from the kidney while in utero as well as when a sibling has VUR (though routine testing in either circumstance is controversial). Reflux also increases risk of acute bladder and kidney infections, so testing for reflux may be performed after a child has one or more infections.

In infants, the signs and symptoms of a urinary tract infection may include only fever and lethargy, with poor appetite and sometimes foul-smelling urine, while older children typically present with discomfort or pain with urination and frequent urination.

Urethral diverticula are often asymptomatic and symptoms that are present tend to be nonspecific. They can co-occur with cancer, in approximately 6-9% of cases, most commonly adenocarcinoma, but also including squamous cell carcinoma and transitional cell carcinoma. Approximately 10% of cases co-occur with kidney stones.

There are 2 types of urethral diverticulums. Congenital and acquired. In infancy usually the urethral diverticulum is congenital but in rare instances acquired urethral diverticulum can be seen in infancy specially following traumatic catheterization.

Common symptoms of urethral diverticulum include incontinence, urinary frequency and urgency, pain during sex, and pain during urination. Other symptoms include pain localized to the urethra or pelvis and frequent urinary tract infection.

When urethral diverticulum becomes severe, a painful mass can sometimes be felt inside the introitus of the vagina, which can discharge pus. If the mass is hard or bleeds, complications like cancer or kidney stones may be present.

A urachal fistula is a congenital disorder caused by the persistence of the allantois (later, urachus), the structure that connects an embryo's bladder to the yolk sac. Normally, the urachus closes off to become the median umbilical ligament; however, if it remains open, urine can drain from the bladder to an opening by the umbilicus.

Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital abnormalities include abnormalities of the ureters and urethra and various degrees of incomplete Müllerian fusion in females and hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis are common; fertility is normal.

Vesicoureteral reflux (VUR), also known as vesicoureteric reflux, is a condition in which urine flows retrograde, or backward, from the bladder into the ureters/kidneys. Urine normally travels in one direction (forward, or anterograde) from the kidneys to the bladder via the ureters, with a 1-way valve at the vesicoureteral (ureteral-bladder) junction preventing backflow. The valve is formed by oblique tunneling of the distal ureter through the wall of the bladder, creating a short length of ureter (1–2 cm) that can be compressed as the bladder fills. Reflux occurs if the ureter enters the bladder without sufficient tunneling, i.e., too "end-on".

The pathophysiology of the condition results from neuronal plasticity associated with bladder afferents and motor neurons innervating the external urethral sphincter. People with this condition generally experience daytime and night time wetting, urinary retention, and often have a history of urinary tract and bladder infections. Constipation and encopresis are often associated with this condition.