National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

KID syndrome


Other Names:
Keratitis-ichthyosis-deafness syndrome, autosomal dominant; KID syndrome, autosomal dominant; Keratitis, Ichthyosis, and Deafness (KID) Syndrome; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; KID syndrome, autosomal dominant; Keratitis, Ichthyosis, and Deafness (KID) Syndrome; KID/HID syndrome; Senter syndrome; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; Ichthyosis hystrix Rheydt type See More
Categories:
This disease is grouped under:
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]
Last updated: 12/12/2016
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)
Last updated: 12/12/2016

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.

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Medical Terms Other Names
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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 eyelashes
Thin eyelashes
[ more ] 		0000653
Squamous cell carcinoma 0002860
Trichiasis
Ingrown eyelashes
0001128
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Last updated: 7/1/2020

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.
The long-term outlook for people with KID syndrome varies, although fatal complications are rare.[3] The symptoms and severity may vary greatly between patients and may change over time.[5] The skin features are generally persistent and are prone to infections, which can be life-threatening (especially in newborns). While the skin symptoms and hearing loss are typically present from birth, eye problems usually begin during childhood or adolescence and worsen with time.[3]

Even though the general prognosis seems good, life-long follow-up is necessary because the condition can be associated with malignant tumors (cancer), particularly squamous cell carcinoma (SCC).[6] SCC of the skin and oral mucosa is a rare but serious complication that can shorten life expectancy.[7]
Last updated: 12/12/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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

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

  • Genetics Home Reference (GHR) contains information on KID syndrome. This website is maintained by the National Library of Medicine.
  • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I am a special education teacher. My new student is 5-years-old and is very impacted by this condition. Is his intelligence presumed to be typical? Also are his fungal infections contagious to other students and staff? See answer


  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; http://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; http://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; http://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.