Learn About Keratitis-Ichthyosis-Deafness Syndrome

What is the definition of Keratitis-Ichthyosis-Deafness Syndrome?

Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.

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What are the causes of Keratitis-Ichthyosis-Deafness Syndrome?

KID syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules.

How prevalent is Keratitis-Ichthyosis-Deafness Syndrome?

KID syndrome is a rare disorder. Its prevalence is unknown. Approximately 100 cases have been reported.

Is Keratitis-Ichthyosis-Deafness Syndrome an inherited disorder?

KID syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Who are the top Keratitis-Ichthyosis-Deafness Syndrome Local Doctors?
Elite
Highly rated in
2
conditions

Universidad De Valparaíso

Facultad De Ciencias 
Valparaiso, VS, CL 23601

Isaac Garcia is in Valparaiso, Chile. Garcia is rated as an Elite expert by MediFind in the treatment of Keratitis-Ichthyosis-Deafness Syndrome. He is also highly rated in 2 other conditions, according to our data. His top areas of expertise are Keratitis-Ichthyosis-Deafness Syndrome, DFNB1, Interstitial Keratitis, and Palmoplantar Keratoderma.

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Highly rated in
39
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Hôpital Larrey

Dermatology Department 
Toulouse, FR 

Juliette Hautier-Mazereeuw is in Toulouse, France. Hautier-Mazereeuw is rated as a Distinguished expert by MediFind in the treatment of Keratitis-Ichthyosis-Deafness Syndrome. She is also highly rated in 39 other conditions, according to our data. Her top areas of expertise are Nonbullous Congenital Ichthyosiform Erythroderma, DFNB1, Keratitis-Ichthyosis-Deafness Syndrome, and Lamellar Ichthyosis.

 
 
 
 
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Distinguished
Highly rated in
83
conditions

Nagoya University Graduate School Of Medicine

Nagoya, JP 46685

Masashi Akiyama is in Nagoya, Japan. Akiyama is rated as a Distinguished expert by MediFind in the treatment of Keratitis-Ichthyosis-Deafness Syndrome. He is also highly rated in 83 other conditions, according to our data. His top areas of expertise are Harlequin Ichthyosis, Nonbullous Congenital Ichthyosiform Erythroderma, Lamellar Ichthyosis, and Pityriasis Rubra Pilaris.

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Who are the sources who wrote this article ?

Published Date:updated Last, November

Published By: National Institutes of Health

What are the Latest Advances for Keratitis-Ichthyosis-Deafness Syndrome?
A Rare Case of KID Syndrome: The Use of Hydrosurgery and Strategies for Antiseptic Wound Care.
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