The main treatment for isolated epispadias is a comprehensive surgical repair of the genito-urinary area usually during the first 7 years of life, including reconstruction of the urethra, closure of the penile shaft and mobilisation of the corpora. The most popular and successful technique is known as the modified Cantwell-Ransley approach. In recent decades however increasing success has been achieved with the complete penile disassembly technique despite its association with greater and more serious risk of damage.

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.

Upon delivery, the exposed bladder is irrigated and a non-adherent film is placed to prevent as much contact with the external environment as possible. In the event the child was not born at a medical center with an appropriate exstrophy support team then transfer will likely follow. Upon transfer, or for those infants born at a medical center able to care for bladder exstrophy, imaging may take place in the first few hours of life prior to the child undergoing surgery.

Primary (immediate) closure is indicated only in those patients with a bladder of appropriate size, elasticity, and contractility as those patients are most likely to develop a bladder of adequate capacity after early surgical intervention.

Conditions that are absolute contraindications despite bladder adequacy include duplication of the penis or scrotum and significant bilateral hydronephrosis.

In a small retrospective study of 25 pregnancies five factors were found to be strongly associated with a prenatal diagnosis of bladder exstrophy:

- Inability to visualize the bladder on ultrasound

- A lower abdominal bulge

- A small penis with anteriorly displaced scrotum

- A low set umbilical insertion

- Abnormal widening of the iliac crests

While a diagnosis of bladder exstrophy was made retrospectively in a majority of pregnancies, in only three cases was a prenatal diagnosis made.

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)

Diagnosis is based on physical examination including radiographs of the hands and feet and imaging studies of the kidneys, bladder, and female reproductive tract. HOXA13 is the only gene known to be associated with HFGS. Approximately 60% of mutations are polyalanine expansions. Molecular genetic testing is clinically available.

A full medical, psychosexual and psychiatric history should be documented. The physician should explore the patient’s concerns about appearance and body image (ruling out body dysmorphic disorder). Additionally, the physician should inquire about overall beliefs, personal values, and assumptions that the patient is making about his or her genitals. Given that Koro is often an “attack” with a great deal of associated anxiety, the physician should ascertain the patient’s emotional state along with the timeline from onset to the presentation at the examination.

A physical examination should involve an assessment of overall health along with a detailed genital examination. In men, genital examination should be performed immediately after penile exposure, to avoid changes due to external temperature. The primary intent of the male exam is to exclude genuine penile anomalies such as hypospadias, epispadias and Peyronie's disease. The presence of a significant suprapubic fat pad should be noted as well. Careful measurements of flaccid length, stretched length and flaccid girth will also be useful. If male patients insist that their penis is shrinking and disappearing, measurements after intracavernosal alprostadil may be used in the office to determine the true erect length and to diagnose any penile abnormalities in the erect state. A physical examination should note any injuries inflicted by the patient in an effort to "prevent" retraction as further confirmation of Koro.

Several criteria are typically used to make a diagnosis of koro. The primary criteria is a patient's report of genital (typically penile or female nipple) retraction despite a lack of objective physical evidence demonstrating retraction. This is accompanied by severe anxiety related to the retraction, fear of death as a result of retraction, and use of mechanical means to prevent retraction. Cases that do not meet all the requirements are generally classified as koro-like symptoms or given a diagnosis of partial koro syndrome. It has been argued that the criteria are sufficient but not necessary to make a diagnosis of koro. Researchers have identified Koro as a possible "cultural relative" of Body Dysmorphic Disorder. DSM-IV explains the process of differential diagnosis between these two disorders.