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Diseases

Genetic and Rare Diseases Information Center (GARD)

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KID syndrome


Other Names for this Disease

  • Keratitis, Ichthyosis, and Deafness (KID) Syndrome
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant
  • KID syndrome, autosomal dominant
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of KID syndrome?

KID syndrome is present at birth. Nearly all cases have skin involvement, which includes red, rough, thickened plaques that are sometimes scaling, as well as sensorineural deafness or severe hearing impairment. Most affected individuals develop eye problems, usually keratitis (cornea defects), which can result in the eyes being very sensitive to light, small blood vessels growing from the iris over the cornea (neovascularization), and progressive vision loss. A small percentage of people may have recurrent or chronic inflammation of the mucous membrane of the eye (conjunctivitis).[1]

Sparse hair or areas of baldness (alopecia) is relatively common, while a complete lack of hair is rare. The palms of the hands and soles of the feet typically have thickened, hardened skin. Less common is absent or abnormal nails. Other associated symptoms may include recurrent infections, abnormal teeth, reduced sweating,. Some of the rare features include an increased risk for developing squamous cell carcinoma of the skin or mucous membranes and life-threatening infections during the newborn period.[1]
Last updated: 9/9/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for KID syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormal hair quantity 90%
Abnormality of immune system physiology 90%
Abnormality of the eyelashes 90%
Aplasia/Hypoplasia of the eyebrow 90%
Hypermelanotic macule 90%
Ichthyosis 90%
Inflammatory abnormality of the eye 90%
Opacification of the corneal stroma 90%
Osteolysis 90%
Photophobia 90%
Skin ulcer 90%
Visual impairment 90%
Abnormality of the fingernails 50%
Fine hair 50%
Furrowed tongue 50%
Hypohidrosis 50%
Hypoplastic toenails 50%
Palmoplantar keratoderma 50%
Aganglionic megacolon 7.5%
Aplasia/Hypoplasia of the cerebellum 7.5%
Arthritis 7.5%
Carious teeth 7.5%
Cognitive impairment 7.5%
Corneal erosion 7.5%
Cryptorchidism 7.5%
Delayed eruption of teeth 7.5%
Delayed skeletal maturation 7.5%
Hemiplegia/hemiparesis 7.5%
Neoplasm of the skin 7.5%
Preauricular skin tag 7.5%
Short stature 7.5%
Urticaria 7.5%
Abnormality of corneal stroma -
Autosomal dominant inheritance -
Blindness -
Corneal scarring -
Elbow flexion contracture -
Furrowed tongue -
Hyperkeratosis -
Hypohidrosis -
Ichthyosis -
Keratoconjunctivitis sicca -
Knee flexion contracture -
Nail dysplasia -
Nail dystrophy -
Oral leukoplakia -
Pes cavus -
Photophobia -
Recurrent bacterial skin infections -
Recurrent corneal erosions -
Sparse eyebrow -
Sparse eyelashes -
Squamous cell carcinoma -
Trichiasis -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. 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.


Other Names for this Disease
  • Keratitis, Ichthyosis, and Deafness (KID) Syndrome
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant
  • KID syndrome, autosomal dominant
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.