An imperforate lacrimal punctum is a congenital disorder of dogs involving the lack of an opening to the nasolacrimal duct (tear duct) in the conjunctiva. Dogs normally have two lacrimal puncta, the superior and inferior. This condition can affect either or both. Symptoms include excessive tearing and tear staining of the hair around the eye. Affected breeds include the American Cocker Spaniel, Bedlington Terrier, Golden Retriever, Poodle, and Samoyed. Imperforate lacrimal puncta can be corrected by surgical opening of the punctum.

Neoplasm should be considered in any patient presenting with NLD obstruction.In patients with an atypical presentation, including younger age and male gender, further workup is appropriate. Bloody punctal discharge or lacrimal sac distension above the medial canthal tendon is also highly suggestive of neoplasm.

As with similar cases of canalicular obstruction, dislodged punctal and canalicular plugs can migrate to and occlude the NLD.

Affected newborns may present with acute urinary retention. In adolescent females, the most common symptoms of an imperforate hymen are cyclic pelvic pain and amenorrhea; other symptoms associated with hematocolpos include urinary retention, constipation, back pain, nausea, and diarrhea.

In teratology, proboscis is a blind-ended, tubelike structure, commonly located in the midface.

Proboscis formation are classified in four general types: holoprosencephalic proboscis, lateral nasal proboscis, supernumerary proboscis, and disruptive proboscis.

- Holoprosencephalic proboscis is found in holoprosencephaly. In cyclopia or ethmocephaly, proboscis is an abnormally formed nose. In cyclopia, a single median eye is associated with arrhinia (absence of the nose) and usually with proboscis formation above the eye. In ethmocephaly, two separate hypoteloric eyes are associated with arrhinia and supraocular proboscis formation. In cebocephaly, no proboscis formation occurs, but a single-nostril nose is present.

- Lateral nasal proboscis (proboscis lateralis) is a tubular proboscis-like structure and represents incomplete formation of one side of the nose; it is found instead of a nostril. The olfactory bulb is usually rudimentary on the involved side. The lacrimal duct (tear duct), nasal bone, nasal cavity, vomer, maxillary sinus, cribriform plate, and ethmoid cells are often missing on the involved side. Ocular hypertelorism may be present. The proboscis lateralis is a rare nasal anomaly.

- Supernumerary proboscis (Accessory proboscis) is found when both nostrils are formed and a proboscis occurs additionally. Accessory proboscis arise from a supernumerary olfactory placode.

- Disruptive proboscis occur if an early embryonic hamartoneoplastic lesion arises in the primitive prosencephalon.

Hidrocystoma (also known as cystadenoma, a Moll's gland cyst, and a sudoriferous cyst) is an adenoma of the sweat glands.

Hidrocystomas are cysts of sweat ducts, usually on the eyelids. They are not tumours (a similar-sounding lesion called hidroadenoma is a benign tumour).

There are three types of "sweat" glands: True sweat glands or eccrine glands;

sebaceous glands, which have an oily secretion around hair follicles; and apocrine glands which have more oily product than eccrine glands and are found on the face, armpit, and groin.

Hidrocystomas usually arise from apocrine glands. They are also called Cysts of Moll or sudoriferous cysts. There may be a type of hidroadenoma that arises from eccrine glands, but these are uncommon.

Other related conditions on the eyelids include chalazion ( a granulomatous reaction to sebaceous glands on the eyelid), lacrimal duct cysts (cysts related to tear ducts) and nasolacrimal duct cysts (the nasolacrimal duct drains tears into the nose via a punctum on the lower eyelid).

Tight hymenal ring is a disorder of the hymen, characterized by a rigid hymen and tight introitus, whether acquired or congenital. It excludes an imperforate hymen.

The condition can be relieved by outpatient surgery or manual dilation.

Epiphora is an overflow of tears onto the face. A clinical sign or condition that constitutes insufficient tear film drainage from the eyes in that tears will drain down the face rather than through the nasolacrimal system.

PELVIS syndrome is a congenital condition characterized by perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag.

Causes of epiphora are any that cause either overproduction of tears or decreased drainage of tears, resulting in tearing onto the cheek. This can be due to ocular irritation and inflammation (including trichiasis and entropion) or an obstructed tear outflow tract which is divided according to its anatomical location (i.e. ectropion, punctal, canalicular or nasolacrimal duct obstruction). The latter is often due to aging (a spontaneous process), conjunctivochalasis, infection (i.e. dacryocystitis), rhinitis, and in neonates or infants, failure of the nasolacrimal duct to open. Another cause could be poor reconstruction of the nasolacrimal duct system after trauma to the area. Cause of trauma could be facial fractures (including nasoethmoid fractures or maxillary Le Fort fractures), and soft tissue trauma involving the nose and/or the eyelid.

This condition is often frustrating or irritating. A systematic review studying the usage of punctal plugs for treatment of dry eye reported a few cases of epiphora among participants.

Atresia is a condition in which an orifice or passage in the body is (usually abnormally) closed or absent.

Examples of atresia include:

- Biliary atresia, a condition in newborns in which the common bile duct between the liver and the small intestine is blocked or absent.

- Choanal atresia, blockage of the back of the nasal passage, usually by abnormal bony or soft tissue.

- Esophageal atresia, which affects the alimentary tract and causes the esophagus to end before connecting normally to the stomach.

- Imperforate anus, malformation of the opening between the rectum and anus.

- Intestinal atresia, malformation of the intestine, usually resulting from a vascular accident in utero.

- Microtia, absence of the ear canal or failure of the canal to be tubular or fully formed (can be related to Microtia, a congenital deformity of the pinna, or outer ear).

- Ovarian follicle atresia, the degeneration and subsequent resorption of one or more immature ovarian follicles.

- Potter sequence, congenital decreased size of the kidney leading to absolutely no functionality of the kidney, usually related to a single kidney.

- Pulmonary atresia, malformation of the pulmonary valve in which the valve orifice fails to develop.

- Renal agenesis, only having one kidney.

- Tricuspid atresia, a form of congenital heart disease whereby there is a complete absence of the tricuspid valve, and consequently an absence of the right atrioventricular connection.

- Vaginal atresia, a congenital occlusion of the vagina or subsequent adhesion of the walls of the vagina, resulting in its occlusion.

An imperforate hymen is a congenital disorder where a hymen without an opening completely obstructs the vagina. It is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It is treated by surgical incision of the hymen.

About 60 percent of initial attacks of dacryocystitis will recur. Individuals with a poorly functioning immune system (immunocompromised) may develop orbital cellulitis, which may lead to optic neuritis, proptosis, motility abnormalities, or blindness.

Salivary gland aplasia (also termed salivary gland agenesis) is the congenital absence of salivary glands. Usually the term relates to the absence of some or all of the major salivary glands.

It is a rare condition, and most known cases have been in association with syndromes of the ectodermal tissues, particularly the lacrimal apparatus. Example syndromes which have been reported with salivary gland aplasia include hereditary ectodermal dysplasia, mandibulofacial dysostosis and hemifacial microsomia.

The main significance of the condition is a lack of saliva, causing xerostomia (dry mouth), with accompanying susceptibility to dental caries (tooth decay), infections of the mouth, and upper respiratory tract infections (e.g., candidiasis, ascending sialadenitis, laryngitis and pharyngitis). Patients with salivary gland aplasia typically require regular application of topical fluoride to prevent tooth decay.

Measurement of the degree of exophthalmos is performed using an exophthalmometer.

Most sources define exophthalmos/proptosis as a protrusion of the globe greater than 18 mm.

The term exophthalmos is often used when describing proptosis associated with Graves' disease.

The absence of a vagina is a result of vaginal agenesis. Diagnostically, it may look similar to a vaginal obstruction such as can be caused by an imperforate hymen or, less commonly, a transverse vaginal septum.

It is frequently associated with Mayer-Rokitansky-Küstner-Hauser (MRKH) syndrome, in which the most common result is an absent uterus in conjunction with a deformed or missing vagina, despite the presence of normal ovaries and normal external genitalia. It is also associated with cervical agenesis, in which the uterus is present but the uterine cervix is absent.

The situation is most urgent where there is a menstruating uterus with an obstructed uterovaginal outflow, leading to hematometra. In this case prompt medical action is required.

Vaginal hypoplasia can vary in severity from being smaller than normal to being completely absent.

Symptoms and signs in the newborn can be sepsis, abdominal mass, and respiratory distress. Other abdominopelvic or perineal congenital anomalies frequently prompt radiographic evaluation in the newborn, resulting in a diagnosis of coincident vaginal atresia. Symptoms for vaginal atresia include cyclical abdominal pain, the inability to start having menstrual cycles, a small pouch or dimple where a vaginal opening should be, and pelvic mass when the upper vagina becomes filled with menstrual blood. Signs and symptoms of vaginal atresia or vaginal agenesis can often go unnoticed in females until they reach the age of menstruation. Women may also experience some form of abdominal pain or cramping.

The presence of a small eye within the orbit can be a normal incidental finding but in most cases it is abnormal and results in blindness. The incidence is 14 per 100,000 and the condition affects 3-11% of blind children.

There are several forms of imperforate anus and anorectal malformations. The new classification is in relation of the type of associated fistula.

The classical Wingspread classification was in low and high anomalies:

- A low lesion, in which the colon remains close to the skin. In this case, there may be a stenosis (narrowing) of the anus, or the anus may be missing altogether, with the rectum ending in a blind pouch.

- A high lesion, in which the colon is higher up in the pelvis and there is a fistula connecting the rectum and the bladder, urethra or the vagina.

- A persistent cloaca (from the term cloaca, an analogous orifice in reptiles and amphibians), in which the rectum, vagina and urinary tract are joined into a single channel.

Imperforate anus is usually present along with other birth defects—spinal problems, heart problems, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb anomalies are among the possibilities.

Hydrocolpos is the distension of the vagina caused by accumulation of fluid due to congenital vaginal obstruction. The obstruction is often caused by an imperforate hymen or less commonly a transverse vaginal septum. The fluid consists of cervical and endometrial mucus or in rare instances urine accumulated through a vesicovaginal fistula proximal to the obstruction. In some cases it is associated with Bardet-Biedl Syndrome. If it occurs in prepubertal girls, it may show up as abdominal swelling. It may be detected by using ultrasound. It may also present at birth as a distended lower abdomen and vagina. It also associated with vaginal atresia.

A Suprapubc bulge is caused by hematocolpos. Vaginal introitus shows a blue bulging membrane.

Exophthalmos (also called exophthalmus, exophthalmia, proptosis, or exorbitism) is a bulging of the eye anteriorly out of the orbit. Exophthalmos can be either bilateral (as is often seen in Graves' disease) or unilateral (as is often seen in an orbital tumor). Complete or partial dislocation from the orbit is also possible from trauma or swelling of surrounding tissue resulting from trauma.

In the case of Graves' disease, the displacement of the eye is due to abnormal connective tissue deposition in the orbit and extraocular muscles which can be visualized by CT or MRI.

If left untreated, exophthalmos can cause the eyelids to fail to close during sleep leading to corneal dryness and damage. Another possible complication would be a form of redness or irritation called "Superior limbic keratoconjunctivitis", where the area above the cornea becomes inflamed as a result of increased friction when blinking. The process that is causing the displacement of the eye may also compress the optic nerve or ophthalmic artery, leading to blindness.

Vaginal atresia is a condition in which the vagina is abnormally closed or absent. The main causes can either be complete vaginal hypoplasia, or a vaginal obstruction, often caused by an imperforate hymen or, less commonly, a transverse vaginal septum. It results in uterovaginal outflow tract obstruction. This condition does not usually occur by itself within an individual, but coupled with other developmental disorders within the female. The disorders that are usually coupled with a female who has vagina atresia are Rokitansky-Mayer- Küster-Hauser syndrome, Bardet-Biedl syndrome, or Fraser syndrome.

Congenital disorders of the salivary glands are rare, but may include:

- Aplasia

- Atresia

- Ectopic salivary gland tissue

- Stafne defect - an uncommon condition which some consider to be an anatomic variant rather than a true disease. It is thought to be created by an ectopic portion of salivary gland tissue which causes the bone of the mandible to remodel around the tissue, creating an apparent cyst like radiolucent area on radiographs. Classically, this lesion is discovered as a chance finding, since it causes no symptoms. It appears below the inferior alveolar nerve canal in the posterior region of the mandible.