Rare Oncology News

Disease Profile

KID syndrome

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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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) syndrome is a rare disorder that causes skin abnormalities, eye problems, and hearing loss.[1] Skin abnormalities include thick, hard skin on the underside of the hands and feet (palmoplantar keratoderma); thick, red patches of skin (erythrokeratoderma); and dry, scaly skin (ichthyosis). Eye problems are caused by keratitis (inflammation of the cornea) which can lead to pain; sensitivity to light; extra blood vessel growth; scarring; and eventual vision loss or blindness.[1] KID syndrome is caused by mutations in the GJB2 gene.[2] Most cases are sporadic but familial cases with autosomal dominant inheritance have been reported.[3] Treatment focuses on the specific symptoms present.[3]

Symptoms

KID syndrome is present from birth. Nearly all affected individuals have skin involvement and sensorineural deafness or severe hearing impairment. Skin symptoms may include thick, hard skin on the underside of the hands and feet (palmoplantar keratoderma); thick, red patches of skin (erythrokeratoderma); and dry, scaly skin (ichthyosis).[4][1] Affected patches of skin can occur anywhere on the body.[1] Breaks in the skin can lead to infections, which can be life-threatening in severe cases (especially in newborns). Hearing loss is usually severe, but occasionally is less severe.[1]

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
Arthritis
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
Intellectual disability
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 developmental delay
0011344
Short stature
Decreased body height
Small stature

[ more ]

0004322
Squamous cell carcinoma of the skin
0006739
Urticaria
Hives
0001025
Percent of people who have these symptoms is not available through HPO
Abnormality of corneal stroma
0011492
Autosomal dominant inheritance
0000006
Blindness
0000618
Corneal scarring
0000559
Corneal ulceration
0012804
Elbow flexion contracture
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

Diagnosis

Making 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

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support 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 more

      These 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

      • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
      • Genetics Home Reference (GHR) contains information on KID syndrome. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss KID syndrome. Click on the link to view a sample search on this topic.

          References

          1. Keratitis-ichthyosis-deafness syndrome. Genetics Home Reference. November, 2012; https://ghr.nlm.nih.gov/condition/keratitis-ichthyosis-deafness-syndrome.
          2. Keith Choate. Overview of the inherited ichthyoses. UpToDate. Waltham, MA: UpToDate; November, 2016;
          3. KID syndrome. Orphanet. April 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=477. Accessed 9/9/2011.
          4. Keratitis Ichthyosis Deafness Syndrome. National Organization for Rare Disorders (NORD). 2006; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/884/viewAbstract. Accessed 9/9/2011.
          5. Keratitis-Ichthyosis-Deafness (KID): A Patient's Perspective. Foundation for Ichthyosis and Related Skin Types (FIRST). 2016; https://www.firstskinfoundation.org/types-of-ichthyosis/keratitis-ichthyosis-deafness-kid.
          6. Shanker V, Gupta M, Prashar A. Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder. Indian Dermatol Online J. January, 2012; 3(1):48-50.
          7. Marla J. F. O'Neill. KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT. OMIM. April 27, 2012; https://www.omim.org/entry/148210.

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