The condition can be diagnosed based on inspection of the vulva. In patients with labial fusion, a flat plane of tissue with a dense central line of tissue is usually seen when the labia majora are retracted, while an anterior opening is usually present below the clitoris.

Treatment is not usually necessary in asymptomatic cases, since most fusions will separate naturally over time, but may be required when symptoms are present. The standard method of treatment for labial fusion is the application of topical estrogen cream onto the areas of adhesion, which is effective in 90% of patients. In severe cases where the labia minora are entirely fused, causing urinary outflow obstruction or vaginal obstruction, the labia should be separated surgically. Recurrence after treatment is common but is thought to be prevented by good hygiene practices. One study has shown that betamethasone may be more effective than estrogen cream in preventing recurrence, with fewer side effects.

Other forms of uterine malformation need to be considered in the work-up for uterine septum. An arcuate uterus contains a residual cranial septum that is smaller than an incomplete septum but definitions between the two conditions are not standardized, - a cause for discrepancies in the literature.

A bicornuate uterus is sometimes confused with a septate uterus as in each situation the cavity is partitioned, however, in the former case the uterine body is cranially doubled (two uterine horns) while in the latter a single uterine body is present. The former represents a malformation of incomplete fusion of the Müllerian systems, and the latter of incomplete absorption. A hysterosalpingogram may not be able to distinguish between the two conditions. The differentiation, however, is important as a septum can be corrected by hysteroscopy, while a bicornuate uterus would be corrected by a metroplasty via laparotomy if necessary.

A pelvic examination may reveal a double vagina or double cervix that should be further investigated and may lead to the discovery of a uterine septum. In most patients, however, the pelvic examination is normal. Investigations are usually prompted on the basis of reproductive problems.

Helpful techniques to investigate a septum are transvaginal ultrasonography and sonohysterography, MRI, and hysteroscopy. More recently 3-D ultrasonography has been advocated as an excellent non-invasive method to delineate the condition. Prior to modern imaging hysterosalpingography was used to help diagnose the uterine septum, however, a bicornuate uterus may deliver a similar image.

An important category of septate uterus is the hybrid type a variant that may be misdiagnosed as bicornuate uterus when seen by laparoscopy Professor El Saman From Egypt was the first to describe this anomaly and warned gynecologist about this common misdiagnosis, whenever there is a uterine fundus depression on laparoscopy gynecologists should compare the depth of this depression with the depth of the dividing internal interface. Hybrid septate uterus benefit from hysteroscopic metroplasty under laparoscopic control.

Patients with a double uterus may need special attention during pregnancy as premature birth and malpresentation are common. Cesarean section was performed in 82% of patients reported by Heinonen.

Uterus didelphys, in certain studies, has also been found associated with higher rate of infertility, miscarriage, intrauterine growth retardation, and postpartum bleed.

Usually bicornuate uterus has good reproductive outcomes. Therefore, the pure type rarely require treatment. In case of hybrid types hysteroscopic metroplasty is needed.

A pelvic examination will typically reveal a double vagina and a double cervix. Investigations are usually prompted on the basis of such findings as well as when reproductive problems are encountered. Not all cases of uterus didelphys involve duplication of the cervix and vagina.

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 evaluate uterine malformations.

Uterus didelphys is often confused with a complete uterine septum. Often more than one method of investigation is necessary to accurately diagnose the condition. Correct diagnosis is crucial as treatment for these two conditions is very different. Whereas most doctors recommend removal of a uterine septum, they generally concur that it is better not to operate on a uterus didelphys. In either case, a highly qualified reproductive endocrinologist should be consulted.

After diagnosing rectovaginal fistula, it is best to wait for around 3 months to allow the inflammation to subside. For low fistulae, a vaginal approach is best, while an abdominal repair would be necessary for a high fistula at the posterior fornix.

A circular incision is made around the fistula and vagina is separated from the underlying rectum with a sharp circumferential dissection. The entire fistulous tract, along with a small rim of rectal mucosa is incised. The rectal wall is then closed extramucosally.

Most rectovaginal fistuals will need surgery to fix. Medications such as antibiotics and Infliximab might be prescribed to help close the rectovaginal fistula or prepare for surgery.

Usage of intrauterine device (IUD) with copper requires one IUD in each horn to be effective in case of bicornuate uterus. The same practice is generally applied when using IUD with progestogen due to lack of evidence of efficacy with only one IUD.

Evidence is lacking regarding progestogen IUD usage for menorrhagia in bicornuate uterus, but a case report showed good effect with a single IUD.

Fordyce spots are completely benign and require no treatment. Often their presence is considered normal anatomic variance rather than a true medical condition.

There is no treatment, but because this is a benign condition with no serious clinical complications, prognosis is excellent.

Leukoedema is a harmless condition, and no treatment is indicated. People may be alarmed by the appearance and benefit from reassurance.

Lip pits are harmless and do not usually require any treatment, although in some reported cases surgical excision has been used.

The diagnosis is usually made on the clinical appearance alone, and biopsy is not usually indicated. The histologic appearance is one of marked hyperparakeratosis producing a ragged surface with many projections of keratin. Typically there is superficial colonization by bacteria. There may be vacuolated cells in the upper portion of the prickle cell layer. There is a similarity between this appearance and that of hairy leukoplakia, linea alba and leukoedema. In people with human immunodeficiency virus, who are at higher risk of oral hairy leukoplakia, a tissue biopsy may be required to differentiate between this and frictional keratosis from cheek and tongue chewing.

Most doctors consider this a normal physiological phenomenon and advise against treatment.

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.

Rectovaginal fistulas are often the result of trauma during childbirth (in which case it is known as obstetric fistula) where improper medical interventions are used, such as episiotomy with forceps/vacuum extraction or in situations where there is inadequate health care, such as in some developing countries. Rectovaginal fistula is said to be known as the leading cause in maternal death in developing countries. Risk factors include prolonged labour, difficult instrumental delivery and paramedian episiotomy. Rates in Eritrea are estimated as high as 350 per 100,000 vaginal births. Fistulas can also develop as a result of physical trauma to either the vagina or anus, including from rape. Women with rectovaginal fistulae are often stigmatized in developing countries, and become outcasts.

Rectovaginal fistula can also be a symptom of various diseases, including infection by lymphogranuloma venereum, or the unintended result of surgery, such as episiotomy or sexual reassignment surgery. They may present as a complication of vaginal surgery, including vaginal hysterectomy. They are a recognized presentation of rectal carcinoma or rarely diverticular disease of the bowel or Crohn's disease. They are seen rarely after radiotherapy treatment for cervical cancer.

Treatment may be requested for cosmetic reasons. Traditional techniques such as surgical excision are effective but will leave a scar. Laser therapy has become the mainstay of therapy.

Published research suggests that the Long Pulsed Nd:YAG laser is a very effective, with a clearance rate of 94% following a single treatment. In this study no scarring or other complications were reported.

The lesions are harmless, and no treatment is indicated beyond reassurance, unless the person requests it. The most common and simple treatment is construction of a specially made acrylic prosthesis that covers the biting surfaces of the teeth and protects the cheek, tongue and labial mucosa (an occlusal splint). This is either employed in the short term as a habit breaking intention, or more permanently (e.g. wearing the prosthesis each night during sleep). Psychological intervention is also reported, but does not appear to be beneficial.

Leukoedema lesions disappear when the mucosa is stretched, which helps to differentiate it from other white lesions in the mouth. The differential diagnosis is with leukoplakia, oral candidiasis, oral lichen planus, white sponge nevus, morsicatio buccarum, hereditary benign intraepithelial dyskeratosis and dyskeratosis congenita. Tissue biopsy is not indicated, but when taken, the histologic appearance is one of increased epithelial thickness, broadening and eleongation of the rete ridges, parakeratosis and intracellular edema of the spinous layer. The cells of the spinous later are vacuolated, large and possess pyknotic nuclei. The superficial squamous cells have a clear, seemingly empty cytoplasm but it has not been shown that there is an increase in intracellular water, possibly making the term edema misleading. The histologic appearance is thought to be caused by water within the cells of the spinous layer causing the light to reflect back as whitish. The diagnosis is usually made based on the clinical appearance alone, but oral exfoliative cytology has been used as a diagnostic aid.

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.

Gonadectomy at time of diagnosis is the current recommendation for PAIS if presenting with cryptorchidism, due to the high (50%) risk of germ cell malignancy. The risk of malignancy when testes are located intrascrotally is unknown; the current recommendation is to biopsy the testes at puberty, allowing investigation of at least 30 seminiferous tubules, with diagnosis preferably based on OCT3/4 immunohistochemistry, followed by regular examinations. Hormone replacement therapy is required after gonadectomy, and should be modulated over time to replicate the hormone levels naturally present in the body during the various stages of puberty. Artificially induced puberty results in the same, normal development of secondary sexual characteristics, growth spurt, and bone mineral accumulation. Women with PAIS may have a tendency towards bone mineralization deficiency, although this increase is thought to be less than is typically seen in CAIS, and is similarly managed.

Unfortunately, the number of differentials to consider for PAIS is particularly large. Prompt diagnosis is particularly urgent when a child is born with ambiguous genitalia, as some causes are associated with potentially life-threatening adrenal crises. Determination of testosterone, testosterone precursors and dihydrotestosterone (DHT) at baseline and / or after human chorionic gonadotropin (hCG) stimulation can be used to exclude such defects in androgen biosynthesis.

Approximately one half of all 46,XY individuals born with ambiguous genitalia will not receive a definitive diagnosis. Androgen receptor (AR) gene mutations cannot be found in 27% to 72% of individuals with PAIS. As a result, genetic analysis can be used to confirm a diagnosis of PAIS, but it cannot be used to rule out PAIS. Evidence of abnormal androgen binding in a genital skin fibroblast study has long been the gold standard for the diagnosis of PAIS, even when an AR mutation is not present. However, some cases of PAIS, including AR-mutant-positive cases, will show normal androgen binding. A family history consistent with X-linked inheritance is more commonly found in AR-mutant-positive cases than AR-mutant-negative cases.

The use of dynamic endocrine tests is particularly helpful in isolating a diagnosis of PAIS. One such test is the human chorionic gonadotropin (hCG) stimulation test. If the gonads are testes, there will be an increase in the level of serum testosterone in response to the hCG, regardless of testicular descent. The magnitude of the testosterone increase can help differentiate between androgen resistance and gonadal dysgenesis, as does evidence of a uterus on ultrasound examination. Testicular function can also be assessed by measuring serum anti-Müllerian hormone levels, which in turn can further differentiate PAIS from gonadal dysgenesis and bilateral anorchia.

Another useful dynamic test involves measuring the response to exogenous steroids; individuals with AIS show a decreased response in serum sex hormone binding globulin (SHBG) after a short term administration of anabolic steroids. Two studies indicate that measuring the response in SHBG after the administration of stanozolol could help to differentiate individuals with PAIS from those with other causes of ambiguous genitalia, although the response in individuals with predominantly male phenotypes overlaps somewhat with the response in normal males.

The treatment of soft tissue parts of midface anomalies is often a reconstruction from a skin flap of the cheek. This skinflap can be used for other operations in the further, as it can be raised again and transposed again. In the treatment of midface anomalies there are generally more operations needed. Bone tissue reconstruction of the midface often occurs later than the soft tissue reconstruction. The most common method to reconstruct the midface is by using the fracture/ incision lines described by René Le Fort. When the cleft involves the maxilla, it is likely that the impaired growth will result in a smaller maxillary bone in all 3 dimensions (height, projection, width).