Webbed penis, also called penis palmatus or penoscrotal fusion, is an acquired or congenital condition in which the scrotal skin extends onto the ventral penile shaft. The penile shaft is buried in scrotum or tethered to the scrotal midline by a fold or web of skin. The urethra and erectile bodies are usually normal. Webbed penis is usually asymptomatic, but the cosmetic appearance is often unacceptable. This condition may be corrected by surgical techniques.

In the congenital form, the deformity represents an abnormality of the attachment between the penis and the scrotum; the penis, the urethra, and the remainder of the scrotum typically are normal.

Webbed penis may also be acquired (iatrogenic) after circumcision or other penile surgery, resulting from excessive removal of ventral penile skin; the penis can retract into the scrotum, resulting in secondary phimosis (trapped penis).

One procedure for webbed penis is the insertion of a subcutaneous soft silicone implant under the penile skin. The procedure was developed by urologist James J. Elist.

Labial fusion is never present at birth, but rather acquired later in infancy, since it is caused by insufficient estrogen exposure and newborns have been exposed to maternal estrogen "in utero". It typically presents in infants at least 3 months old. Most presentations are asymptomatic and are discovered by a parent or during routine medical examination. In other cases, patients may present with associated symptoms of dysuria, urinary frequency, refusal to urinate, or post-void dribbling. Some patients present with vaginal discharge due to pooling of urine in the vulval vestibule or vagina.

Labial fusion is a medical condition of the female genital anatomy where the labia minora become fused together. It is generally a pediatric condition.

The condition is known by a number of names, including labial fusion, labial adhesion, labial synechiae, labial agglutination, labial adherence, gynatresia, vulvar fusion, and vulvar synechiae.

Hypospadias is usually diagnosed in the newborn nursery by the characteristic appearance of the penis. The urinary opening (“meatus”) is lower than normal, and most children have only partial development of the foreskin, lacking the normal covering for the glans on the underside. The abnormal “hooded” foreskin calls attention to the condition. However, not all newborns with partial foreskin development have hypospadias, as some have a normal urinary opening with a hooded foreskin, which is called “chordee without hypospadias”.

Megameatus with intact prepuce variant of hypospadias occurs when the foreskin is normal and the hypospadias is concealed. The condition is discovered during newborn circumcision or later in childhood when the foreskin begins to retract. A newborn with normal-appearing foreskin and a straight penis who is discovered to have hypospadias after a circumcision was started can have circumcision completed without worry for jeopardizing future hypospadias repair. Hypospadias is almost never discovered after a circumcision.

Hypospadias is a congenital disorder of the urethra where the urinary opening is not at the usual location on the head of the penis. It is the second-most common birth abnormality of the male reproductive system, affecting about one of every 250 males at birth. In roughly 90% of cases, the opening (meatus) is on or near the head of the penis (glans), referred to as distal hypospadias, while the remainder have proximal hypospadias with a meatus near or within the scrotum. Shiny tissue seen extending from the meatus to the tip of the glans, which would have made the urinary channel, is referred to as the urethral plate.

In most cases, the foreskin is also underdeveloped and does not wrap completely around the penis, leaving the underside of the glans penis uncovered. Also, a downward bending of the penis, commonly referred to as chordee, may occur. This is found in 10% of distal hypospadias and 50% of proximal hypospadias at the time of surgery. The scrotum may be higher than usual to either side of the penis, called penoscrotal transposition, adding to the abnormal overall appearance.

Hypospadias is thought to result from failure of the urinary channel to completely tubularize to the end of the penis; the cause is not known. Most often, it is the only abnormal finding, although in about 10% of cases, hypospadias may be part of a syndrome with multiple abnormalities.

The most common associated defect is an undescended testicle, which has been reported in around 3% of infants with distal hypospadias and 10% of those having proximal hypospadias. The combination of hypospadias and an undescended testicle sometimes indicates a disorder of sexual differentiation, and so additional testing may be recommended. Otherwise no blood tests or X-rays are routinely needed in newborns with hypospadias.

Hypospadias can be a symptom or indication of an intersex condition but the presence of hypospadias alone is not enough to classify as intersex. In most cases, hypospadias is not associated with any condition.

A freemartin or free-martin (sometimes martin heifer) is an infertile female mammal with masculinized behavior and non-functioning ovaries. Genetically the animal is chimeric: Karyotyping of a sample of cells shows XX/XY chromosomes. The animal originates as a female (XX), but acquires the male (XY) component in utero by exchange of some cellular material from a male twin, via vascular connections between placentas: an example of microchimerism. Externally, the animal appears female, but various aspects of female reproductive development are altered due to acquisition of anti-Müllerian hormone from the male twin. Freemartinism is the normal outcome of mixed-sex twins in all cattle species that have been studied, and it also occurs occasionally in other mammals including sheep, goats and pigs.

A bicornuate uterus or bicornate uterus (from the Latin "cornū", meaning "horn"), commonly referred to as a "heart-shaped" uterus, is a uterus composed of two "horns" separated by a septum. In humans, a bicornuate uterus is a type of uterine malformation, but in some other mammalian species, including rodents and pigs, it is normal.

A uterine septum is a form of a congenital malformation where the uterine cavity is partitioned by a longitudinal septum; the outside of the uterus has a normal typical shape. The wedge-like partition may involve only the superior part of the cavity resulting in an "incomplete septum" or a "subseptate uterus", or less frequently the total length of the cavity ("complete septum") and the cervix resulting in a double cervix. The septation may also continue caudally into the vagina resulting in a "double vagina".

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)

It is possible to diagnose a bicornuate uterus using gynecologic ultrasonography, specifically sonohysterography, and MRI. However, as there is no indication to do such procedures on asymptomatic women, the presence of a bicornuate uterus may not be detected until pregnancy or delivery.

In a C-section (usually done due to malpresentation), the irregular shape of the uterus will be apparent.

Other less reliable diagnostic imaging methods include hysterosalpingography and hysteroscopy; these procedures are typically done during the course of an infertility investigation.

If suspected, a test can be done to detect the presence of the male Y-chromosomes in some circulating white blood cells of the subject. Genetic testing for the Y-chromosome can be performed within days of birth and can aid in the early identification of a sterile female bovine.

Physical examination of the calf may also reveal differences: frequently freemartin heifers have at the ventral tip of their vulva a tuft of hair which is distinctive in these individuals, which is a subjective assessment. Also, many (but not all), freemartins have a shortened vagina compared with that of a fertile heifer.

Uterus didelphys (sometimes also "uterus didelphis") represents a uterine malformation where the uterus is present as a paired organ when the embryogenetic fusion of the Müllerian ducts fails to occur. As a result, there is a double uterus with two separate cervices, and rarely a double vagina as well. Each uterus has a single horn linked to the ipsilateral fallopian tube that faces its ovary.

In non human species ("e.g." nematodes), a didelphic genital tract may be normal rather than a malformation. Such species are described as didelphic, as opposed to monodelphic, with a single tract.

Women with the condition may be asymptomatic and unaware of having a double uterus. However, a study by Heinonen showed that certain conditions are more common. In his study of 26 women with a double uterus gynecological complaints included dysmenorrhea and dyspareunia. All patients displayed a double vagina. The fetal survival rate in 18 patients who delivered was 67.5%. Premature delivery occurred in 21% of the pregnancies. Breech presentation occurred in 43% of women and cesarean section was performed in 82% of the cases.

The condition may not be known to the affected individual and not result in any reproductive problems; thus normal pregnancies may occur. However, it is associated with a higher risk for miscarriage, premature birth, and malpresentation. According to the classical study by Buttram there is a 60% risk of a spontaneous abortion, this being more common in the second than in the first trimester. However, there is no agreement on this number and other studies show a lower risk. Woelfer found that the miscarriage risk is more pronounced in the first trimester.

The condition is also associated with abnormalities of the renal system. Further, skeletal abnormalities have been linked to the condition.

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.

Midline cervical clefts are a rare congenital anomaly resulting from incomplete fusion during embryogenesis of the first and second branchial arches in the ventral midline of the neck. The condition presents as a midline cutaneous defect of the anterior neck with a skin projection or sinus, or as a subcutaneous erythematous fibrous cord. Surgical excision is the preferred treatment.

Splenogonadal fusion is a rare congenital malformation that results from an abnormal connection between the primitive spleen and gonad during gestation. A portion of the splenic tissue then descends with the gonad. Splenogonadal fusion has been classified into two types: continuous, where there remains a connection between the main spleen and gonad; and discontinuous, where ectopic splenic tissue is attached to the gonad, but there is no connection to the orthotopic spleen. Patients with continuous splenogonadal fusion frequently have additional congenital abnormalities, most commonly cryptorchidism.

The anomaly was first described in 1883 by Bostroem. Since then more than 150 cases of splenogonadal fusion have been documented. The condition is considered benign. A few cases of testicular neoplasm have been reported in association with splenogonadal fusion. The reported cases have occurred in patients with a history of cryptorchidism, which is associated with an elevated risk of neoplasm.

Splenogonadal fusion occurs with a male-to-female ratio of 16:1, and is seen nearly exclusively on the left side. The condition remains a diagnostic challenge, but preoperative consideration of the diagnosis may help avoid unnecessary orchiectomy. On scrotal ultrasound, ectopic splenic tissue may appear as an encapsulated homogeneous extratesticular mass, isoechoic with the normal testis. Subtle hypoechoic nodules may be present in the mass. The presence of splenic tissue may be confirmed with a technetium-99m sulfur colloid scan.

The arcuate uterus is a form of a uterine anomaly or variation where the uterine cavity displays a concave contour towards the fundus. Normally the uterine cavity is straight or convex towards the fundus on anterior-posterior imaging, but in the arcuate uterus the myometrium of the fundus dips into the cavity and may form a small septation. The distinction between an arcuate uterus and a septate uterus is not standardized.

A median mandibular cyst is a type of cyst that occurs in the midline of the mandible, thought to be created by proliferation and cystic degeneration of resting epithelial tissue that is left trapped within the substance of the bone during embryologic fusion of the two halves of the mandible, along the plane of fusion later termed the symphysis menti. A ture median mandibular cyst would therefore be classified as a non-odontogenic, fissural cyst. The existence of this lesion as a unique clinical entity is controversial, and some reported cases may have represented misdiagnosed odontogenic cysts, which are by far the most common type of intrabony cyst occurring in the jaws. It has also been suggested that the mandible develops as a bilobed proliferation of mesenchyme connected with a central isthmus. Therefore, it is unlikely that epithelial tissue would become trapped as there is no ectoderm separating the lobes in the first instance.

A transvaginal ultrasound can reveal the condition.

Helpful techniques to investigate the uterine structure are transvaginal ultrasonography and sonohysterography, hysterosalpingography, MRI, and hysteroscopy. More recently 3-D ultrasonography has been advocated as an excellent non-invasive method to delineate the condition.

Sternal clefts are rare congenital malformations that result from defective embryologic fusion of paired mesodermal bands in the ventral midline. They may be associated with other midline defects (as in pentalogy of Cantrell). It may also occur in isolation. Sternal cleft is treated by surgery in early life to avoid fixation leading to immobility.

A chronic, persistent low back pain along with buttock pain is the most important presentation. Radicular pain is observed.

Common relevant features of acrocephalosyndactyly are a high-arched palate, pseudomandibular prognathism (appearing as mandibular prognathism), a narrow palate, and crowding of the teeth.

It may be associated with:

- 8th cranial nerve lesion

- Optic nerve compression

- Mental retardation

- Syndactyly

Numerous associated abnormalities of other organ systems may be present. This heterogeneity requires comprehensive evaluation of all patients and treatment regimes that can vary from modification of activities to extensive spinal surgeries. Furthermore, it is unclear whether Klippel–Feil syndrome is a unique disease, or if it is one part of a spectrum of congenital spinal deformities. Klippel–Feil syndrome is usually diagnosed after birth.

The most common sign of the disorder is restricted mobility of the neck and upper spine. A short neck and low hairline at the back of the head may occur in some patients.

Associated abnormalities may include:

- scoliosis (side-to-side curvature of the spine), which is abnormal curving of the spine. The spine sometimes appears as a "C" or an "S"

- spina bifida, when the spinal canal and the back bone do not close completely during birth

- anomalies of the kidneys and the ribs

- cleft palate (hole in the roof of the mouth)

- dental problems (late dentition, high-risk of caries, oligo- and hypodontia)

- respiratory problems

- heart malformations

- short stature

- Duane syndrome

- Approximately 35% of patients with Klippel–Feil syndrome will also have a congenital elevation of the scapula known as Sprengel's deformity

The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, fingers and heart defects. These heart defects often lead to a shortened life expectancy, the average being 35–45 years of age among males and 40–50 among females. This condition is similar to the heart failure seen in gigantism.

In 2011, a study identifying the occurrence of symptoms of 100 patients was published.