People with distal 18q- frequently have conductive and/or sensorineural hearing loss. The degree of hearing loss may vary from a mild to a severe loss.

Individuals with distal 18q- may have problems with reflux. Hernias have also been reported.

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.

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)

Cryptorchidism is the absence of one or both testes from the scrotum. It is the most common birth defect of the male genital. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism may develop after infancy, sometimes as late as young adulthood, but that is exceptional.

Cryptorchidism is distinct from monorchism, the condition of having only one testicle. The condition may occur on one or both sides; it more commonly affects the right testis.

A testis absent from the normal scrotal position may be:

1. anywhere along the "path of descent" from high in the posterior (retroperitoneal) abdomen, just below the kidney, to the inguinal ring;

2. in the inguinal canal;

3. "ectopic", having "wandered" from the path of descent, usually outside the inguinal canal and sometimes even under the skin of the thigh, the perineum, the opposite scrotum, or the femoral canal;

4. undeveloped ("hypoplastic") or severely abnormal ("dysgenetic");

5. missing (also see anorchia).

About two-thirds of cases without other abnormalities are unilateral; most of the other third involve both testes. In 90% of cases an undescended testis can be felt in the inguinal canal. In a small minority of cases missing testes may be found in the abdomen or appear to be nonexistent (truly "hidden").

Undescended testes are associated with reduced fertility, increased risk of testicular germ cell tumors and psychological problems when the boy is grown. Undescended testes are also more susceptible to testicular torsion (and subsequent infarction) and inguinal hernias. Without intervention, an undescended testicle will usually descend during the first year of life, but to reduce these risks, undescended testes can be brought into the scrotum in infancy by a surgical procedure called an orchiopexy.

Although cryptorchidism nearly always refers to "congenital" absence or maldescent, a testis observed in the scrotum in early infancy can occasionally "reascend" (move back up) into the inguinal canal. A testis which can readily move or be moved between the scrotum and canal is referred to as "retractile". The word is from the Greek "κρυπτός", "kryptos", meaning hidden "ὄρχις", "orchis", meaning testicle.

Cryptorchidism, hypospadias, testicular cancer and poor semen quality make up the syndrome known as testicular dysgenesis syndrome.

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 most notable features of Wilson-Turner Syndrome are intellectual disability, obesity, hypogonadism, gynecomastia, and distinct facial features. All of the symptoms are chronic. Affected females are known to have less severe signs and symptoms than males. Female carriers of the disorder may have none or mild symptoms.

- Intellectual Disability is the limitation in an individual's mental functioning and skills. Patients of Wilson-Turner Syndrome have mental disability generally ranging from mild to severe, more frequently on the former. This symptom often coincides with delay in speech development and the occurrence of mood swings. Most males were noted to have a quiet and a cheerful disposition. However, individuals who displayed aggression and became easily upset were also seen. Children will display a delay in speech development often combined with excessive drooling and low voice tone. Some of the studied male patients had speech impairment ranging from little or no speech to minor stuttering.

- Obesity is the accumulation of excess fat on the body. Individuals with Wilson-Turner Syndrome are characterized to have truncal obesity, meaning the fat has accumulated in one's middle. Truncal obesity is often related to heart disease, kidney disease, and lowered blood immune system. Truncal obesity in this disorder becomes more apparent around the age of puberty.

- Tapered fingers is when one end of the finger is diminished in thickness, causing the ends of the fingers to appear pointed. This deformity is not debilitating in any particular manner. In addition to tapered fingers, both hands and feet tend to be small. Some males were observed to have pes planus, also known as flat feet.

- Hypogonadism is a condition in which the gonads have a decrease in function. This condition may result from the lack of sex hormone synthesis, such as androgen and estrogen. Hormones produced by the gonads may also decrease. Hypogonadism also influences the onset of other conditions of the Wilson-Turner Syndrome, such as gynecomastia and decreased testes size in males. It can also cause short stature in men and women. In addition to little genital development, pubic and body hair are scant.

- Some of the facial features that are associated with Wilson-Turner Syndrome include small head circumference, high forehead, prominent ears, and nose with a flattened bridge. There have been cases of a moderately high palate. Low muscle tone and subcutaneous swelling in facial tissue has also been noted. Thick eyebrows are also common. However, there has been reported cases where individuals had none of the mentioned facial features, which shows phenotypic abnormalities have possible environmental influences.

- Gynecomastia is a non-cancerous increase in male breast tissue. It is believed that disturbances in the endocrine system leads to an increase in estrogen and androgen hormones lead to the development of gynecomastia. A key feature of gynecomastia is a rubbery or firm glandular subcutaneous chest tissue that is palpated under the areola of the nipple, instead of the soft fatty tissue. There can also be in increase in diameter of the areola asymmetry in the chest tissue. The breast enlargement can occur in one or both side. Similar to truncal obesity, gynecomastia becomes apparent around the age of puberty.

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.

Many men who were born with undescended testes have reduced fertility, even after orchiopexy in infancy. The reduction with unilateral cryptorchidism is subtle, with a reported infertility rate of about 10%, compared with about 6% reported by the same study for the general population of adult men.

The fertility reduction after orchiopexy for bilateral cryptorchidism is more marked, about 38%, or 6 times that of the general population. The basis for the universal recommendation for early surgery is research showing degeneration of spermatogenic tissue and reduced spermatogonia counts after the second year of life in undescended testes. The degree to which this is prevented or improved by early orchiopexy is still uncertain.

Wilson-Turner Syndrome (WTS), also known as Mental Retardation X Linked Syndromic 6 (MRXS6), or Mental Retardation X Linked with Gynecomastia and Obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity. It is found to be linked to the X chromosome and caused by a mutation in the HDAC8 gene, which is located on the q arm at locus 13.1. Individuals with Wilson–Turner syndrome have a spectrum of physical characteristics including dysmorphic facial feature, hypogonadism, and short stature. Females generally have milder phenotype than males. The study of X-linked mental retardation began in 1943 when Martin and Bell reported a family exhibiting sex-linked mental retardation. However, this syndrome was not recognized until 1991. Wilson studied 14 males from 3 successive generations that presented hypogonadism, mental retardation, gynecomastia, short stature, among other symptoms. Eventually, this disorder was ruled distinct from a syndrome presented by Prader and Willi (Prader-Willi syndrome) because of its mode of inheritance, gynecomastia, and presence of small hands and feet. However, there are some speculations that this syndrome is in the same spectrum as the Cornelia de Lange syndrome. This disorder affects all demographics equally and is seen in less than one in one million people.

A seborrheic keratosis, also known as seborrheic verruca, basal cell papilloma, or a senile wart, is a non-cancerous (benign) skin tumour that originates from cells in the outer layer of the skin (keratinocytes). Like liver spots, seborrheic keratoses are seen more often as people age.

The tumours (also called lesions) appear in various colours, from light tan to black. They are round or oval, feel flat or slightly elevated, like the scab from a healing wound, and range in size from very small to more than across. They can often come in association with other skin conditions, including basal cell carcinoma. Sometimes seborrheic keratosis and basal cell carcinoma occur at the same location, and sometimes seborrheic keratosis progresses to basal cell carcinoma. At clinical examination the differential diagnosis include warts and melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a "pasted on" appearance. Some dermatologists refer to seborrheic keratoses as "seborrheic warts", because they resemble warts, but strictly speaking the term "warts" refers to lesions that are caused by human papillomavirus.

Pelvic organ prolapse (POP) is characterized by descent of pelvic organs from their normal positions. In women, the condition usually occurs when the pelvic floor collapses after gynecological cancer treatment, childbirth or heavy lifting.

In men, it may occur after the prostrate gland is removed. The injury occurs to fascia membranes and other connective structures that can result in cystocele, rectocele or both. Treatment can involve dietary and lifestyle changes, physical therapy, or surgery.

Seborrheic keratoses may be divided into the following types:

- Common seborrheic keratosis (basal cell papilloma, solid seborrheic keratosis)

- Reticulated seborrheic keratosis (adenoid seborrheic keratosis)

- Stucco keratosis (digitate seborrheic keratosis, hyperkeratotic seborrheic keratosis, serrated seborrheic keratosis, verrucous seborrheic keratosis) -- Often are light brown to off-white. Pinpoint to a few millimeters in size. Often found on the distal tibia, ankle, and foot.

- Clonal seborrheic keratosis

- Irritated seborrheic keratosis (inflamed seborrheic keratosis)

- Seborrheic keratosis with squamous atypia

- Melanoacanthoma (pigmented seborrheic keratosis)

- Dermatosis papulosa nigra—Commonly found among adult dark-skinned individuals, presents on the face as small benign papules from a pinpoint to a few millimeters in size.

- Inverted follicular keratosis

Also see:

- The sign of Leser-Trélat

Pelvic organ prolapses are graded either via the Baden-Walker System, Shaw's System, or the Pelvic Organ Prolapse Quantification (POP-Q) System.

There are no specific clinical signs or complementary test results for this condition. The typical symptoms of PNE or PN are seen, for example, in male competitive cyclists (it is often called "cyclist syndrome"), who can rarely develop recurrent numbness of the penis and scrotum after prolonged cycling, or an altered sensation of ejaculation, with disturbance of micturition (urination) and reduced awareness of defecation. Nerve entrapment syndromes, presenting as genitalia numbness, are amongst the most common bicycling associated urogenital problems.

The pain is typically caused by sitting, relieved by standing, and is absent when recumbent (lying down) or sitting on a toilet seat. If the perineal pain is positional (changes with the patient's position, for example sitting or standing), this suggests a tunnel syndrome. Anesthesiologist John S. McDonald of UCLA reports that sitting pain relieved by standing or sitting on a toilet seat is the most reliable diagnostic parameter.

Other than positional pain and numbness, the main symptoms are fecal incontinence and urinary incontinence.

Differential diagnosis should consider the far commoner conditions chronic prostatitis/chronic pelvic pain syndrome and interstitial cystitis.

The hallmark of a stone that obstructs the ureter or renal pelvis is excruciating, intermittent pain that radiates from the flank to the groin or to the inner thigh. This pain, known as renal colic, is often described as one of the strongest pain sensations known. Renal colic caused by kidney stones is commonly accompanied by urinary urgency, restlessness, hematuria, sweating, nausea, and vomiting. It typically comes in waves lasting 20 to 60 minutes caused by peristaltic contractions of the ureter as it attempts to expel the stone.

The embryological link between the urinary tract, the genital system, and the gastrointestinal tract is the basis of the radiation of pain to the gonads, as well as the nausea and vomiting that are also common in urolithiasis. Postrenal azotemia and hydronephrosis can be observed following the obstruction of urine flow through one or both ureters.

Pain in the lower left quadrant can sometimes be confused with diverticulitis because the sigmoid colon overlaps the ureter and the exact location of the pain may be difficult to isolate due to the close proximity of these two structures.

The main symptom is meningoencephalitis which happens in ~75% of NBD patients. Other general symptoms of Behçet's disease are also present among parenchymal NBD patients such as fever, headache, genital ulcers, genital scars, and skin lesions. When the brainstem is affected, ophthalmoparesis, cranial neuropathy, and cerebellar or pyramidal dysfunction may be observed. Cerebral hemispheric involvement may result in encephalopathy, hemiparesis, hemisensory loss, seizures, dysphasia, and mental changes including cognitive dysfunction and

psychosis. As for the spinal cord involvement, pyramidal signs in the limbs, sensory level dysfunction, and, commonly, sphincter dysfunction may be observed.

Some of the symptoms are less common such as stroke (1.5%), epilepsy (2.2–5%), brain tumor, movement disorder, acute meningeal syndrome, and optic neuropathy.

The initial signs and symptoms of NBD are usually very general. This makes NBD hard to diagnose until the patients experience a severe neurological damage. In addition, the combination of symptoms varies among patients.

Urolithiasis refers to stones originating anywhere in the urinary system, including the kidneys and bladder. Nephrolithiasis refers to the presence of such stones in the kidneys. Calyceal calculi are aggregations in either the minor or major calyx, parts of the kidney that pass urine into the ureter (the tube connecting the kidneys to the urinary bladder). The condition is called ureterolithiasis when a calculus is located in the ureter. Stones may also form or pass into the bladder, a condition referred to as bladder stones.

Pudendal nerve entrapment (PNE), also known as Alcock canal syndrome, is an uncommon source of chronic pain, in which the pudendal nerve (located in the pelvis) is entrapped or compressed. Pain is positional and is worsened by sitting. Other symptoms include genital numbness, fecal incontinence and urinary incontinence.

The term pudendal neuralgia (PN) is used interchangeably with "pudendal nerve entrapment", but a 2009 review study found both that "prevalence of PN is unknown and it seems to be a rare event" and that "there is no evidence to support equating the presence of this syndrome with a diagnosis of pudendal nerve entrapment," meaning that it is possible to have all the symptoms of pudendal nerve entrapment (otherwise known as pudendal neuralgia) based on the criteria specified at Nantes in 2006, without having an entrapped pudendal nerve.

A 2015 study of 13 normal female cadavers found that the pudendal nerve was attached or fixed to the sacrospinous ligament in all cadavers studied, suggesting that the diagnosis of pudendal nerve entrapment may be overestimated.

Although lichen planus can present with a variety of lesions, the most common presentation is as a well defined area of purple-coloured, itchy, flat-topped papules with interspersed lacy white lines (Wickham's striae). This description is known as the characteristic "6 Ps" of lichen planus: planar (flat-topped), purple, polygonal, pruritic, papules, and plaques. This rash, after regressing, is likely to leave an area of hyperpigmentation that slowly fades. That said, a variety of other lesions can also occur.

Lichen planus affecting mucosal surfaces may have one lesion or be multifocal. Examples of lichen planus affecting mucosal surfaces include:

- "Esophageal lichen planus", affecting the esophageal mucosa. This can present with difficulty or pain when swallowing due to oesophageal inflammation, or as the development of an esophageal stricture. It has also been hypothesized that it is a precursor to squamous cell carcinoma of the esophagus.

- "Genital lichen planus," which may cause lesions on the glans penis or skin of the scrotum in males, and the vulva or vagina in females. Symptoms may include lower urinary tract symptoms associated with stenosis of the urethra, painful sexual intercourse, and itching. In females, "Vulvovaginal-gingival syndrome," is severe and distinct variant affecting the vulva, vagina, and gums, with complications including scarring, vaginal stricture formation, or vulva destruction. The corresponding syndrome in males, affecting the glans penis and gums, is the "peno-gingival syndrome". It is associated with HLA-DQB1.

Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of mineralocorticoids, glucocorticoids or sex steroids from cholesterol by the adrenal glands (steroidogenesis).

Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults.

In male dogs, the tumor affects the penis and foreskin. In female dogs, it affects the vulva. Rarely, the mouth or nose are affected. The tumor often has a cauliflower-like appearance. Signs of genital TVT include a discharge from the prepuce and in some cases urinary retention, from blockage of the urethra. Signs of a nasal TVT include nasal fistulae, nosebleeds and other nasal discharge, facial swelling, and enlargement of the submandibular lymph nodes.

CNS involvement most often occurs as a chronic meningoencephalitis. Lesions tend to occur in the brainstem, the basal ganglia and deep hemispheric white matter and may resemble those of MS. Brainstem atrophy is seen in chronic cases.

Neurological involvements range from aseptic meningitis to vascular thrombosis such as dural sinus thrombosis and organic brain syndrome manifesting with confusion, seizures, and memory loss. Sudden hearing loss (Sensorineural) is often associated with it. They often appear late in the progression of the disease but are associated with a poor prognosis.