Patients may complain of severe problems with dry eyes, or with visual obscurations. It can also be asymptomatic, and only discovered because of subtle lines and marks seen during an eye exam.

EBMD is a bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Findings are variable and can change with time. While the disorder is usually asymptomatic, up to 10% of patients may have recurrent corneal erosions, usually beginning after age 30; conversely, 50% of patients presenting with idiopathic recurrent erosions have evidence of this dystrophy.

Corneal dystrophies were commonly subdivided depending on its specific location within the cornea into "anterior", "stromal", or "posterior" according to the layer of the cornea affected by the dystrophy.

In 2015 the ICD3 classification was published. and has classified disease into four groups as follows:

Epithelial and subepithelial dystrophies

- Epithelial basement membrane dystrophy

- Epithelial recurrent erosion dystrophies (EREDs)—Franceschetti corneal dystrophy, Dystrophia Smolandiensis, and Dystrophia Helsinglandica

- Subepithelial mucinous corneal dystrophy

- Meesmann corneal dystrophy

- Lisch epithelial corneal dystrophy

- Gelatinous drop-like corneal dystrophy

Bowman Layer dystrophies

- Reis–Bücklers corneal dystrophy

- Thiel–Behnke corneal dystrophy

- Stromal dystrophies-

- TGFB1 corneal dystrophies

- Lattice corneal dystrophy, type 1 variants (III, IIIA, I/IIIA, IV) of lattice corneal dystrophy

- Granular corneal dystrophy, type 1

- Granular corneal dystrophy, type 2

Stromal dystrophies

- Macular corneal dystrophy

- Schnyder crystalline corneal dystrophy

- Congenital stromal corneal dystrophy

- Fleck corneal dystrophy

- Posterior amorphous corneal dystrophy

- Central cloudy dystrophy of François

- Pre-Descemet corneal dystrophy

Endothelial dystrophies

- Fuchs' dystrophy

- Posterior polymorphous corneal dystrophy

- Congenital hereditary endothelial dystrophy

- X-linked endothelial corneal dystrophy

The following (now historic) classification was by Klintworth:

Superficial dystrophies:

- Epithelial basement membrane dystrophy

- Meesmann juvenile epithelial corneal dystrophy

- Gelatinous drop-like corneal dystrophy

- Lisch epithelial corneal dystrophy

- Subepithelial mucinous corneal dystrophy

- Reis-Bucklers corneal dystrophy

- Thiel–Behnke dystrophy

Stromal dystrophies:

- Lattice corneal dystrophy

- Granular corneal dystrophy

- Macular corneal dystrophy

- Schnyder crystalline corneal dystrophy

- Congenital stromal corneal dystrophy

- Fleck corneal dystrophy

Posterior dystrophies:

- Fuchs' dystrophy

- Posterior polymorphous corneal dystrophy

- Congenital hereditary endothelial dystrophy

Main differential diagnosis include various causes of monoclonal gammopathy, lecithin-cholesterol-acyltransferase deficiency, Fabry disease, cystinosis, tyrosine transaminase deficiency, systemic lysosomal storage diseases, and several skin diseases (X-linked ichthyosis, keratosis follicularis spinolosa decalvans).

Historically, an accumulation of small gray variable shaped punctate opacities of variable shape in the central deep corneal stroma immediately anterior to Descemet membrane were designated deep filiform dystrophy and cornea farinata because of their resemblance to commas, circles, lines, threads (filiform), flour (farina) or dots. These abnormalities are now known to accompany X-linked ichthyosis, steroid sulfatase deficiency, caused by steroid sulfatase gene mutations and are currently usually not included under the rubric of the corneal dystrophies.

In the past, the designation vortex corneal dystrophy (corneal verticillata) was applied to a corneal disorder characterized by the presence of innumerable tiny brown spots arranged in curved whirlpool-like lines in the superficial cornea. An autosomal dominant mode of transmission was initially suspected, but later it was realized that these individuals were affected hemizygous males and asymptomatic female carriers of an X-linked systemic metabolic disease caused by a deficiency of α-galactosidase, known as Fabry disease.

Epithelial basement membrane dystrophy (EBMD), also known as map-dot-fingerprint dystrophy and Cogans's microcystic dystrophy, is a disorder of the eye that can cause pain and dryness.

It is sometimes included in the group of corneal dystrophies. It diverges from the formal definition of corneal dystrophy in being in most cases non-familial. It also has a fluctuating course, while for a typical corneal dystrophy the course is progressive. When it is considered part of this group, it is the most common type of corneal dystrophy.

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.

Pain is not typically present in pellucid marginal degeneration, and aside from vision loss, no symptoms accompany the condition. However, in rare cases, PMD may present with sudden onset vision loss and excruciating eye pain, which occurs if the thinning of the cornea leads to perforation. While PMD usually affects both eyes, some unilateral cases have been reported.

PMD is characterized by bilateral thinning (ectasia) in the inferior and peripheral region of the cornea. The distribution of the degeneration is crescent or arcuate shaped. The cornea just above the region of thinning is of normal thickness, and may protrude anteriorly, which creates an irregular astigmatism. This is described as a "beer belly" appearance since the greatest protrusion occurs below the horizontal midline (unlike keratoconus). Normally, PMD does not present with vascularization of the cornea, scarring, or any deposits of lipid.

Pellucid marginal degeneration (PMD), is a degenerative corneal condition, often confused with keratoconus. It is typically characterized by a clear, bilateral thinning (ectasia) in the inferior and peripheral region of the cornea, although some cases affect only one eye. The cause of the disease remains unclear.

The term "pellucid marginal degeneration" was first coined in 1957 by the ophthalmologist Schalaeppi. The word "pellucid" means clear, indicating that the corneas retain clarity in pellucid marginal degeneration.

Band keratopathy is seen when there is calcification of the epithelial basement membrane, Bowman's membrane, and the anterior stroma with destruction of Bowman's membrane. The calcium salts are intracellular when the process is due to alteration of systemic calcium metabolism, whereas they are extracellular when due to local disease.

Band keratopathy is a corneal disease derived from the appearance of calcium on the central cornea. This is an example of metastatic calcification, which by definition, occurs in the presence of hypercalcemia.

Oculocutaneous Albinism Type I or –Type 1A (OCA1A) is an autosomal recessive skin disease associated with albinism. This type of albinism is caused when the gene OCA1 does not function properly.

The location of OCA1 may be written as "11q1.4-q2.1", meaning it is on chromosome 11, long arm, somewhere in the range of band 1, sub-band 4, and band 2, sub-band 1.

Microcystic lymphatic malformations are a cutaneous condition characterized by aggregations of ill-defined, abnormal, microscopic lymphatic channels.

There are three distinct types of lymphangioma, each with their own symptoms. They are distinguished by the depth and the size of abnormal lymph vessels, but all involve a malformation of the lymphic system. Lymphangioma circumscriptum can be found on the skin's surface, and the other two types of lymphangiomas occur deeper under the skin.

- Lymphangioma circumscriptum, a microcystic lymphatic malformation, resembles clusters of small blisters ranging in color from pink to dark red. They are benign and do not require medical treatment, although some patients may choose to have them surgically removed for cosmetic reasons.

- Cavernous lymphangiomas are generally present at birth, but may appear later in the child's life. These bulging masses occur deep under the skin, typically on the neck, tongue and lips, and vary widely in size, ranging from as small as a centimeter in diameter to several centimeters wide. In some cases, they may affect an entire extremity such as a hand or foot. Although they are usually painless, the patient may feel mild pain when pressure is exerted on the area. They come in the colors white, pink, red, blue, purple, and black; and the pain lessens the lighter the color of the bump.

- Cystic hygroma shares many commonalities with cavernous lymphangiomas, and some doctors consider them to be too similar to merit separate categories. However, cystic lymphangiomas usually have a softer consistency than cavernous lymphangiomas, and this term is typically the one that is applied to lymphangiomas that develop in fetuses. They usually appear on the neck (75%), arm pit or groin areas. They often look like swollen bulges underneath the skin.

Linear and whorled nevoid hypermelanosis (also known as "Linear nevoid hyperpigmentation," "Progressive cribriform and zosteriform hyperpigmentation," "Reticulate and zosteriform hyperpigmentation," "Reticulate hyperpigmentation of Iijima and Naito and Uyeno," "Zebra-like hyperpigmentation in whorls and streaks," and "Zebra-line hyperpigmentation") is a disorder of pigmentation that develops within a few weeks of birth and progresses for one to two years before stabilizing. There is linear and whorled hyperpigmentation following the lines of Blaschko without preceding bullae or verrucous lesions. It is important to exclude other pigmentary disorders following the Blaschko lines before making a diagnosis of linear and whorled nevoid hypermelanosis.The differential diagnoses include incontinentia pigmenti, linear epidermal nevus, hypomelanosis of Ito and Goltz syndrome. Recently, a case of linear and whorled nevoid hypermelanosis was reported in a Malaysian Chinese girl.

Lymphangiomas have traditionally been classified into three subtypes: "capillary" and "cavernous lymphangiomas" and cystic hygroma. This classification is based on their microscopic characteristics. A fourth subtype, the "hemangiolymphangioma" is also recognized.

- Capillary lymphangiomas

- Cavernous lymphangiomas

- Cystic hygromas

- Hemangiolymphangioma

Lymphangiomas may also be classified into "microcystic", "macrocystic", and "mixed" subtypes, according to the size of their cysts.

- Microcystic lymphangiomas

- Macrocystic lymphangiomas

- Mixed lymphangiomas

Finally, lymphangiomas may be described in stages, which vary by location and extent of disease. In particular, stage depends on whether lymphangiomas are present above or "superior" to the hyoid bone ("suprahyoid"), below or "inferior" to the hyoid bone ("infrahyoid"), and whether the lymphangiomas are on one side of the body ("unilateral") or both ("bilateral").

- Stage I: Unilateral infrahyoid.

- Stage II: Unilateral suprahyoid.

- Stage III: Unilateral suprahyoid and infrahyoid.

- Stage IV: Bilateral suprahyoid.

- Stage V: Bilateral suprahyoid and infrahyoid.

It can occur in a number of situations which include:

- Amniotic band syndrome : particularly if unilateral

- Cornelia de Lange Syndrome

- Fetal hydantoin syndrome

- Incontinentia pigmenti

Microcystic adnexal carcinoma (also known as sclerosing sweat duct carcinoma) is a cutaneous condition characterized by a slow-growing plaque or nodule.

A Cystic lymphatic malformation is a deep-seated, typically multilocular, ill-defined soft-tissue mass that is painless and covered by normal skin. These malformations may further be divided into macrocystic lymphatic malformations and microcystic lymphatic malformations.

The diagnosis of constriction ring syndrome can be confirmed with an ultrasonography. The clinical manifestations can be extremely variable. It could be a single or multiple manifestation. This can be confirmed at the end of the first trimester or at the beginning of the second trimester. But not every patient will be diagnosed at that moment, most will get this diagnosis at birth.

The differential diagnosis includes;

- Symbrachydactyly

- Chorionic villus sampling

- Congenital amputations

- Hypoplasias of hand, digit, thumb

- Adams-Oliver syndrome

- ADAM complex

ADAM Complex; CRS is sometimes mislabeled as ADAM complex. ADAM is an abbreviation for Amniotic Deformity, Adhesions Mutilations. CRS is the malformation due to a constriction ring around mostly a limb. ADAM-complex is the association of limb defects (caused by constriction rings) and certain craniofacial clefts

“Adams-Oliver syndrome is often mislabeled as CRS and consists of cutis aplasia of the scalp in which a longitudinal defect can vary in size and can often be associated with full-thickness skullcap loss. The distal digital or toe hypoplasia-aplasia is often confused with CRS. Constriction rings with or without edema are not present. The digital or toe hypoplasia-aplasia usually contains diminutive nails or nail folds”.

The constriction of appendages by amniotic bands may result in:

1. Constriction rings around the digits, arms and legs

2. Swelling of the extremities distal to the point of constriction (congenital lymphedema)

3. Amputation of digits, arms and legs (congenital amputation)

A strong relationship between ABS and clubfoot (also called "talipes") exists. A 31.5% of associated clubfoot deformity and ABS can be correlated with 20% occurring bilaterally. Other abnormalities found with ABS include: clubhands, cleft lip, and/or cleft palate, and hemangioma.

Decreased fetal movement could be a sign of a serious problem which may include ABS. It is rare but possible for the membrane to become wrapped around the placenta or the neck of the baby in the womb causing strangulation and death.

Anomalies resembling Pelger–Huët anomaly that are acquired rather than congenital have been described as pseudo Pelger–Huët anomaly. These can develop in the course of acute myelogenous leukemia or chronic myelogenous leukemia and in myelodysplastic syndrome. It has also been described in Filovirus disease.

In patients with these conditions, the pseudo–Pelger–Huët cells tend to appear late in the disease and often appear after considerable chemotherapy has been administered. The morphologic changes have also been described in myxedema associated with panhypopituitarism, vitamin B12 and folate deficiency, multiple myeloma, enteroviral infections, malaria, muscular dystrophy, leukemoid reaction secondary to metastases to the bone marrow, and drug sensitivity, sulfa and valproate toxicities are examples. In some of these conditions, especially the drug-induced cases, identifying the change as Pelger–Huët anomaly is important because it obviates the need for further unnecessary testing for cancer.

Peripheral blood smear shows a predominance of neutrophils with bilobed nuclei which are composed of two nuclear masses connected with a thin filament of chromatin. It resembles the pince-nez glasses, so it is often referred to as pince-nez appearance. Usually the congenital form is not associated with thrombocytopenia and leukopenia, so if these features are present more detailed search for myelodysplasia is warranted, as pseudo-Pelger–Huët anomaly can be an early feature of myelodysplasia.

Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity).

"Glassblower's cataracts" are a form of cataract. They are formed by many years or decades of exposure to infrared radiation while working

in the occupation of glass blowing, or working close to hot or molten metals such with metal foundry workers or blacksmiths. Glassblower's cataracts are due to chronic exposure to infrared radiation emitted due to heating of glass or molten metal. The infrared radiation is absorbed by the iris and lens of the eye. This causes cataracts after decades of exposure.

Dysmelia (from Gr. δυσ- "dys", "bad" + μέλ|ος "mél|os", "limb" + Eng. suff. -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development.

Dysmelia can refer to

- missing (aplasia) limbs: amelia, oligodactyly, congenital amputation e.g. Tibial or Radial aplasia

- malformation of limbs: shortening (micromelia, rhizomelia or mesomelia), ectrodactyly, phocomelia, meromelia, syndactyly, brachydactyly, club foot

- too many limbs: polymelia, polydactyly, polysyndactyly

- others: Tetraamelia, hemimelia, Symbrachydactyly