Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that while it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases).

Other problems can include severe scoliosis (twisting of the vertebrae), limbal dermoids, and hearing loss (see hearing loss with craniofacial syndromes), and deafness or blindness in one or both ears/eyes, Granulosa cell tumors may be associated as well.

Lisch epithelial corneal dystrophy (LECD), also known as band-shaped and whorled microcystic dystrophy of the corneal epithelium, is a rare form of corneal dystrophy first described in 1992 by Lisch et al. In one study it was linked to chromosomal region Xp22.3, with as yet unknown candidate genes.

The main features of this disease are bilateral or unilateral gray band-shaped and feathery opacities. They sometimes take on a form of a whirlpool, repeating the known pattern of corneal epithelium renewal. Abrasion of the epithelium in 3 patients brought only temporary relief, with abnormal epithelium regrowth in several months.

Epithelial cells in the zones of opacity were shown to have diffuse cytoplasmic vacuoles with as yet unestablished content.

Goldenhar syndrome (also known as oculo-auriculo-vertebral (OAV) syndrome) is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. Common clinical manifestations include limbal dermoids, preauricular skin tags, and strabismus.

The term is sometimes used interchangeably with hemifacial microsomia, although this definition is usually reserved for cases without internal organ and vertebrae disruption.

It affects between 1/3,500 and 1/26,000 live births, with a male:female ratio of 3:2.

Symptoms of pterygium include persistent redness, inflammation, foreign body sensation, tearing, dry and itchy eyes. In advanced cases the pterygium can affect vision as it invades the cornea with the potential of obscuring the optical center of the cornea and inducing astigmatism and corneal scarring. Many patients do complain of the cosmetic appearance of the eye either with some of the symptoms above or as their major complaint.

A pterygium is a pinkish, triangular tissue growth on the cornea of the eye. It typically starts on the cornea near the nose. It may slowly grow but rarely grows so large that the pupil is covered. Often both eyes are involved.

The cause is unclear. It appears to be partly related to long term exposure to UV light and dust. Genetic factors also appear to be involved. It is a benign growth. Other conditions that can look similar include a pinguecula, tumor, or Terrien's marginal corneal degeneration.

Prevention may include wearing sunglasses and a hat if in an area with strong sunlight. Among those with the condition, an eye lubricant can help with symptoms. Surgical removal is typically only recommended if the ability to see is affected. Following surgery a pterygium may recur in around half of cases.

The frequency of the condition varies from 1% to 33% in various regions of the world. It occurs more commonly among males than females and in people who live closer to the equator. The condition becomes more common with age. The condition has been described since at least 1000 BC.

The age of onset is in a child's infancy. Bilateral corneal opacification started in the second year of life and led to severe visual impairment. However, cornea surgery and replacement resulted in better vision.

Symptoms include a combination of spinocerebellar degeneration and corneal dystrophy. Mental retardation and slowly progressive cerebellar abnormalities were also diagnosed in patients. Other symptoms include corneal edema, thickening of Descemet membrane, and degenerative pannus. Abnormalities were found in muscle and sural nerves.

Sex cord tumour with annular tubules, commonly referred to by its abbreviation SCTAT, is a rare ovarian tumour in the sex cord group of gonadal tumours. It may be spelled sex cord tumor with annular tubules.

Due to its classification, a dermoid cyst can occur wherever a teratoma can occur.

Dermatochalasis is sometimes confused with blepharochalasis, but these are two different conditions.

A dermoid cyst is a teratoma of a cystic nature that contains an array of developmentally mature, solid tissues. It frequently consists of skin, hair follicles, and sweat glands, while other commonly found components include clumps of long hair, pockets of sebum, blood, fat, bone, nails, teeth, eyes, cartilage, and thyroid tissue.

As dermoid cysts grow slowly and contain mature tissue, this type of cystic teratoma is nearly always benign. In those rare cases wherein the dermoid cyst is malignant, a squamous cell carcinoma usually develops in adults, while infants and children usually present with an endodermal sinus tumor.

A limbal nodule is any nodular lesion at the limbus (junction of the cornea and sclera) of the eye.

The differential diagnosis for a limbal nodule can include:

- Pinguecula

- Early Pterygium

- Foreign body / foreign body granuloma

- Phlycten, an inflamed nodule of lymphoid tissue

- Episcleritis

- Scleritis

- Granuloma

- Limbal dermoid, a kind of choristoma (NB: in other organs "dermoid" can refer to a teratoma)

- malignant melanoma

Corneal-cerebellar syndrome (also known as Der Kaloustian-Jarudi-Khoury syndrome) is an autosomally resessive disease that was first described in 1985. Three cases are known: all are sisters in the same family.

These tumours may be seen in the context of Peutz-Jeghers syndrome or be sporadic. Large tumours are more likely to be sporadic. Small incidental tumours are more likely to be syndromic.

It has a distinctive appearance under the microscope, from which it derives its name.

Blepharochalasis results from recurrent bouts of painless eyelid swelling, each lasting for several days. This is thought to be a form of localized angioedema, or rapid accumulation of fluid in the tissues. Recurrent episodes lead to thin and atrophic skin. Damage to the levator palpebrae superioris muscle causes ptosis, or drooping of the eyelid, when the muscle can no longer hold the eyelid up.

A distichia is an eyelash that arises from an abnormal spot on the eyelid. This abnormality, attributed to a genetic mutation, is known to affect dogs and humans. Distichiae (the abnormal eyelash) usually exit from the duct of the meibomian gland at the eyelid margin. They are usually multiple and sometimes more than one arises from a duct. They can affect either the upper or lower eyelid and are usually bilateral. The lower eyelids of dogs usually have no eyelashes.

Distichiae usually cause no symptoms because the lashes are soft, but they can irritate the eye and cause tearing, squinting, inflammation, and corneal ulcers and scarring. Treatment options include manual removal, electrolysis, electrocautery, cryotherapy, and surgery.

Porokeratosis is a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer.

Porokeratosis may be divided into the following clinical types:

- "Plaque-type porokeratosis" (also known as "Classic porokeratosis" and "Porokeratosis of Mibelli") is characterized by skin lesions that start as small, brownish papules that slowly enlarge to form irregular, annular, hyperkeratotic or verrucous plaques. Sometimes they may show gross overgrowth and even horn-like structures may develop. Skin malignancy, although rare, is reported from all types of porokeratosis. Squamous cell carcinomata have been reported to develop in Mibelli's type porokeratosis over partianal areas involving anal mucosa. This was the first report mentioning mucosal malignancy in any form of porokeratosis.

- "Disseminated superficial porokeratosis" is a more generalized processes and involves mainly the extremities in a bilateral, symmetric fashion. In about 50% of cases, skin lesions only develop in sun-exposed areas, and this is referred to as "disseminated superficial actinic porokeratosis"

- "Porokeratosis palmaris et plantaris disseminata" is characterized by skin lesions that are superficial, small, relatively uniform, and demarcated by a distinct peripheral ridge of no more than 1mm in height.

- "Linear porokeratosis" is characterized clinically skin lesions are identical to those of classic porokeratosis, including lichenoid papules, annular lesions, hyperkeratotic plaques with central atrophy, and the characteristic peripheral ridge.

- "Punctate porokeratosis" is a skin condition associated with either classic porokeratosis or linear porokeratosis types of porokeratosis, and is characterized by multiple, minute, and discrete punctate, hyperkeratotic, seed-like skin lesions surrounded by a thin, raised margin on the palms and soles.

- "Porokeratosis plantaris discreta" is a skin condition that occurs in adults, with a 4:1 female preponderance, characterized by a sharply marginated, rubbery, wide-based papules. It is also known as "Steinberg's lesion". It was characterized in 1970.

Ramos-Arroyo syndrome is marked by corneal anesthesia, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, unusual facial appearance, persistent ductus arteriosus, Hirschsprung disease, and moderate intellectual disability. It appears to be a distinct autosomal dominant syndrome with variable expressivity.

As of 2008 this syndrome has only been reported in five individuals within three generations of the same family; two young children, their mother, their uncle and their maternal grandmother. This most recent generation to be diagnosed with Ramos-Arroyo syndrome supports the hypothesis that this disease is a distinct autosomal

dominant disorder. If this syndrome could be identified in other families it may help to discriminate the gene responsible.

Terrien marginal degeneration is a noninflammatory, unilateral or asymmetrically bilateral, slowly progressive thinning of the peripheral corneal stroma.

The cause of Terrien marginal degeneration is unknown, its prevalence is roughly equal between males and females, and it usually occurs in the second or third decade of life.

Keratoglobus is a little-understood disease with an uncertain cause, and its progression following diagnosis is unpredictable. If afflicting both eyes, the deterioration in vision can affect the patient's ability to drive a car or read normal print. It does not however lead to blindness per se.

Keratoglobus (from Greek: "kerato-" horn, cornea; and Latin: "globus" round), is a degenerative non-inflammatory disorder of the eye in which structural changes within the cornea cause it to become extremely thin and change to a more globular shape than its normal gradual curve. It causes corneal thinning, primarily at the margins, resulting in a spherical, slightly enlarged eye.

It is sometimes equated with "megalocornea".

Neurofibromatosis type II (also known as MISME syndrome - multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition which may be inherited or may arise spontaneously. The main manifestation of the condition is the development of symmetric, benign brain tumors in the region of the cranial nerve VIII, which is the "auditory-vestibular nerve" that transmits sensory information from the inner ear to the brain. Many people with this condition also experience visual problems. NF II is caused by mutations of the "Merlin" gene, which seems to influence the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. Historically the underlying disorder has not had any therapy due to the cell function caused by the genetic mutation. However, new drug research and some clinical trials have shown some promise in having beneficial effects. Collaborative research to find better treatments is ongoing, such as the work of the Synodos NF-2 Consortium of scientists.

Primary juvenile glaucoma is glaucoma that develops due to ocular hypertension and is evident either at birth or within the first few years of life. It is caused due to abnormalities in the anterior chamber angle development that obstruct aqueous outflow in the absence of systemic anomalies or other ocular malformation.

The typical infant who has congenital glaucoma usually is initially referred to an ophthalmologist because of apparent corneal edema. The commonly described triad of epiphora (excessive tearing), blepharospasm and photophobia may be missed until the corneal edema becomes apparent.

Corneal ectatic disorders or corneal ectasia are a group of uncommon, noninflammatory, eye disorders characterised by bilateral thinning of the central, paracentral, or peripheral cornea.

- Keratoconus, a progressive, noninflammatory, bilateral, asymmetric disease, characterized by paraxial stromal thinning and weakening that leads to corneal surface distortion.

- Keratoglobus, a rare noninflammatory corneal thinning disorder, characterised by generalised thinning and globular protrusion of the cornea.

- Pellucid marginal degeneration, a bilateral, noninflammatory disorder, characterized by a peripheral band of thinning of the inferior cornea.

- Posterior keratoconus, a rare condition, usually congenital, which causes a nonprogressive thinning of the inner surface of the cornea, while the curvature of the anterior surface remains normal. Usually only a single eye is affected.

- Post-LASIK ectasia, a complication of LASIK eye surgery.

- Terrien's marginal degeneration, a painless, noninflammatory, unilateral or asymmetrically bilateral, slowly progressive thinning of the peripheral corneal stroma.