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Results: 1 to 20 of 64

1.

Keratitis ichthyosis and deafness syndrome

MedGen UID:
777082
Concept ID:
C3665333
Disease or Syndrome
2.

Keratitis-ichthyosis-deafness syndrome, autosomal dominant

Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss. People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnormal blood vessel growth over the cornea (neovascularization), and scarring. Over time, affected individuals experience a loss of sharp vision (reduced visual acuity); in severe cases the keratitis can lead to blindness. Most people with KID syndrome have thick, hard skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Affected individuals also have thick, reddened patches of skin (erythrokeratoderma) that are dry and scaly (ichthyosis). These dry patches can occur anywhere on the body, although they most commonly affect the neck, groin, and armpits. Breaks in the skin often occur and may lead to infections. In severe cases these infections can be life-threatening, especially in infancy. Approximately 12 percent of people with KID syndrome develop a type of skin cancer called squamous cell carcinoma, which may also affect mucous membranes such as the lining of the mouth. Partial hair loss is a common feature of KID syndrome, and often affects the eyebrows and eyelashes. Affected individuals may also have small, abnormally formed nails. Hearing loss in this condition is usually profound, but occasionally is less severe.
[from GHR]

MedGen UID:
332032
Concept ID:
C1835678
Disease or Syndrome
3.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
4.

Complete deafness

MedGen UID:
108418
Concept ID:
C0581883
Finding
5.

Keratitis

Inflammation of the cornea. [from NCI]

MedGen UID:
44013
Concept ID:
C0022568
Disease or Syndrome
6.

Corneal neovascularization

New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION. [from MeSH]

MedGen UID:
43103
Concept ID:
C0085109
Disease or Syndrome
7.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
8.

Ichthyosis

Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. [from MeSH]

MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
9.

Deafness

A general term for the complete loss of the ability to hear from both ears. [from MeSH]

MedGen UID:
4155
Concept ID:
C0011053
Finding
10.

Disorder of cornea

Your cornea is the outermost layer of your eye. It is clear and shaped like a dome. The cornea helps to shield the rest of the eye from germs, dust, and other harmful matter. It also helps your eye to focus. If you wear contact lenses, they float on top of your corneas. . Problems with the cornea include: -Refractive errors. -Allergies. -Infections. -Injuries. -Dystrophies - conditions in which parts of the cornea lose clarity due to a buildup of cloudy material. Treatments of corneal disorders include medicines, corneal transplantation, and corneal laser surgery. NIH National Eye Institute.  [from MedlinePlus]

MedGen UID:
3617
Concept ID:
C0010034
Disease or Syndrome
11.

Corneal ulceration

Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. [from HPO]

MedGen UID:
786064
Concept ID:
CN188032
Finding
12.

Stromal keratitis

MedGen UID:
727306
Concept ID:
C1318020
Disease or Syndrome
13.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
14.

Corneal neovascularization

Ingrowth of new blood vessels into the cornea. [from HPO]

MedGen UID:
506578
Concept ID:
CN167224
Finding
15.

Recurrent corneal erosions

The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. [from HPO]

MedGen UID:
504466
Concept ID:
CN000463
Finding
16.

Keratitis

Inflammation of the cornea. [from HPO]

MedGen UID:
504465
Concept ID:
CN000459
Finding
17.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
446352
Concept ID:
CN000341
Finding
18.

Ichthyosis

An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. [from HPO]

MedGen UID:
429191
Concept ID:
CN007091
Finding
19.

Keratopathy

MedGen UID:
68615
Concept ID:
C0235270
Pathologic Function
20.

Bilateral

Affecting both sides of the body, or a pair of organs. [from NCI]

MedGen UID:
65977
Concept ID:
C0238767

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