Keratitis-Ichthyosis-Deafness SyndromeSymptoms, Doctors, Treatments, Advances & More
Keratitis-Ichthyosis-Deafness Syndrome Overview
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.
C Cheng practices practicing medicine in Baoding, China. Cheng is rated as an Elite expert by MediFind in the treatment of Keratitis-Ichthyosis-Deafness Syndrome. They are also highly rated in 3 other conditions, according to our data. Their clinical expertise encompasses Keratitis-Ichthyosis-Deafness Syndrome, Tethered Cord Syndrome, Spinal Tumor, Oophorectomy, and Spinal Fusion.
North Shore Urgent Care (Danvers)
Evelyn Lilly is a Dermatologist practicing medicine in Danvers, 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. Dr. Lilly is currently accepting new patients.
Madison Dermatology LLC
Eduardo Rivera is a Dermatologist practicing medicine in Madison, 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 Keratitis-Ichthyosis-Deafness Syndrome, Netherton Syndrome, Peeling Skin Syndrome, and Ichthyosis Bullosa of Siemens. Dr. Rivera is currently accepting new patients.
Published Date: November 01, 2012
Published By: National Institutes of Health