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.

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.

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.

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)

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.

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.

Most patients report acute anxiety attacks due to perceived genital retraction and/or genital shrinkage, despite a lack of any objectively visible biological changes in the genitalia that are longstanding. "Longstanding" refers to changes that are sustained over a significant period and do not appear reversible, unlike the effect of cold temperatures on some genital regions that cause retraction. These changes may trigger a koro attack when observed, although the effects of cold temperatures are objectively reversible. According to literature, episodes usually last several hours, though the duration may be as long as two days. There are cases in which koro symptoms persist for years in a chronic state, indicating a potential co-morbidity with body dysmorphic disorder. In addition to retraction, other symptoms include a perception of alteration of penis shape and loss of penile muscle tone. In cases when sufferers have no perception of retraction, some patients may complain of genital paraesthesia or genital shortening. Among females, the cardinal symptom is nipple retraction in the breast, generally into the breast as a whole.

Psychological components of koro anxiety include fear of impending death, penile dissolution and loss of sexual power. Feelings of impending death along with retraction and perceived spermatorrhea has a strong cultural link with Chinese traditional beliefs. This is demonstrated by the fact that Asians generally believe koro symptoms are fatal, unlike most patients in the West. Other ideational themes are intra-abdominal organ shrinkage, sex change to female or eunuch, non-specific physical danger, urinary obstruction, sterility, impending madness, spirit possession and a feeling of being bewitched.

Extremely anxious sufferers and their family members may resort to physical methods to prevent the believed retraction of the penis. A man may perform manual or mechanical penile traction, or "anchoring" by a loop of string or some clamping device. Similarly, a woman may be seen grabbing her own breast, pulling her nipple, or even having iron pins inserted into the nipple. Physical injury may occur from these attempts. These forceful attempts often lead to injuries, even death.

Koro is a culture-specific syndrome delusional disorder in which an individual has an overpowering belief that one's genitalia are retracting and will disappear, despite the lack of any true longstanding changes to the genitals. Koro is also known as shrinking penis, and it is listed in the "Diagnostic and Statistical Manual of Mental Disorders". The syndrome occurs worldwide, and mass hysteria of genital-shrinkage anxiety has a history in Africa, Asia, and Europe. In the United States and Europe, the syndrome is commonly known as genital retraction syndrome. The condition can be diagnosed through psychological assessment along with physical examination to rule out genuine disorders of the genitalia that could be causing true retraction.