Keratitis-Ichthyosis-Deafness SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Keratitis-Ichthyosis-Deafness Syndrome
Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.
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.
KID syndrome is a rare disorder. Its prevalence is unknown. Approximately 100 cases have been reported.
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.
Conor Dolehide is a Dermatologist practicing medicine in Oak Lawn, Illinois. Dr. Dolehide is rated as a Distinguished provider by MediFind in the treatment of Keratitis-Ichthyosis-Deafness Syndrome. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Ichthyosis Bullosa of Siemens, Netherton Syndrome, Peeling Skin Syndrome, and Keratitis-Ichthyosis-Deafness Syndrome. Dr. Dolehide is board certified in American Board Of Dermatology, Micrographic Dermatologic Surgery.
Eduardo Rivera is a Dermatologist practicing medicine in Columbus, Indiana. Dr. Rivera is rated as a Distinguished provider by MediFind in the treatment of Keratitis-Ichthyosis-Deafness Syndrome. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Ichthyosis Bullosa of Siemens, Peeling Skin Syndrome, Netherton Syndrome, and Keratitis-Ichthyosis-Deafness Syndrome.
Evelyn Lilly is a Dermatologist practicing medicine in Boston, Massachusetts. Dr. Lilly is rated as a Distinguished provider by MediFind in the treatment of Keratitis-Ichthyosis-Deafness Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Keratitis-Ichthyosis-Deafness Syndrome, Melanoma, Actinic Keratosis, and Seborrheic Keratosis.
Published Date: November 01, 2012
Published By: National Institutes of Health