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Disease Profile
KID syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Neonatal
ICD-10
Q80.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Keratitis-ichthyosis-deafness syndrome, autosomal dominant; KID syndrome, autosomal dominant; Keratitis, Ichthyosis, and Deafness (KID) Syndrome;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Keratitis-ichthyosis-deafness (KID)
Symptoms
Most affected individuals also develop eye problems that are primarily caused by keratitis (inflammation of the cornea). Keratitis can lead to pain; sensitivity to light (photophobia); extra blood vessel growth (neovascularization); scarring; and progressive vision loss. In severe cases, it can lead to blindness.[1] A small percentage of people may have recurrent or chronic inflammation of the mucous membrane of the eye (conjunctivitis).[4]
Other features of KID syndrome may include:[4][1]
- sparse hair or areas of baldness (alopecia), often affecting the eyebrows or eyelashes
- absent, small, or abnormal nails
- abnormal teeth
- reduced sweating
- an increased risk for developing squamous cell carcinoma of the skin (this develops in about 12% of affected individuals)
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal eyelash morphology |
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ] |
0000499 |
Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ] |
0100840 |
Corneal neovascularization |
New blood vessel formation in cornea
|
0011496 |
Erythema | 0010783 | |
Generalized hyperkeratosis | 0005595 | |
Ichthyosis | 0008064 | |
Keratitis |
Corneal inflammation
|
0000491 |
Macule |
Flat, discolored area of skin
|
0012733 |
Oral leukoplakia |
Oral white patch
|
0002745 |
Osteolysis |
Breakdown of bone
|
0002797 |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] |
0000613 |
Recurrent bacterial skin infections | 0005406 | |
Sensorineural hearing impairment | 0000407 | |
Skin ulcer |
Open skin sore
|
0200042 |
Sparse hair | 0008070 | |
30%-79% of people have these symptoms | ||
Alopecia |
Hair loss
|
0001596 |
Dystrophic fingernails |
Poor fingernail formation
|
0008391 |
Dystrophic toenail |
Poor toenail formation
|
0001810 |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] |
0002213 |
Furrowed tongue |
Grooved tongue
|
0000221 |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] |
0000966 |
Hypoplastic fingernail |
Small fingernail
Underdeveloped fingernail
[ more ] |
0001804 |
Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
5%-29% of people have these symptoms | ||
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
Joint inflammation
|
0001369 | |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Corneal erosion |
Damage to outer layer of the cornea of the eye
|
0200020 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] |
0000529 |
Reduced tendon reflexes | 0001315 | |
Severe global |
0011344 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Squamous |
0006739 | |
Urticaria |
Hives
|
0001025 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of corneal stroma | 0011492 | |
0000006 | ||
Blindness | 0000618 | |
Corneal scarring | 0000559 | |
Corneal ulceration | 0012804 | |
Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] |
0002987 |
Hyperkeratosis | 0000962 | |
Keratoconjunctivitis sicca |
Dry eyes
|
0001097 |
Knee flexion contracture | 0006380 | |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Nail dystrophy |
Poor nail formation
|
0008404 |
Pes cavus |
High-arched foot
|
0001761 |
Recurrent corneal erosions |
Recurrent breakdown of clear protective layer of eye
|
0000495 |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
Sparse eyelashes |
Scant eyelashes
Scanty e
DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
Rare Gastroenterology News |