Keratitis Ichthyosis Deafness KID Syndrome synonyms
What other names are the Keratitis Ichthyosis Deafness KID Syndrome known by? Synonyms and other terms with which Keratitis Ichthyosis Deafness KID Syndrome is known.
Keratitis Ichthyosis Deafness (KID) Syndrome is a rare genetic disorder that affects multiple systems in the body. It is also known by several other names, including KID Syndrome, KID Syndrome with Hearing Loss, and KID Syndrome with Ichthyosis. This condition is characterized by the presence of three main features: keratitis, ichthyosis, and deafness.
Keratitis refers to inflammation of the cornea, the transparent front part of the eye. It can cause redness, pain, and blurred vision. In KID Syndrome, keratitis often occurs in childhood and can lead to vision impairment if not properly managed.
Ichthyosis is a group of skin disorders characterized by dry, scaly skin. In KID Syndrome, the ichthyosis is usually present from birth and can affect large areas of the body. The skin may appear thick, rough, and have a fish-like scale appearance. It can cause discomfort and increase the risk of skin infections.
Deafness is a common feature of KID Syndrome. It can range from mild to severe and can affect one or both ears. The hearing loss may be present at birth or develop later in childhood. It can impact speech and language development if not addressed early.
Other associated features of KID Syndrome may include hair abnormalities, such as sparse or brittle hair, as well as dental and nail abnormalities. The severity of symptoms can vary among individuals with KID Syndrome, even within the same family.
KID Syndrome is caused by mutations in the GJB2 gene, which provides instructions for making a protein called connexin 26. This protein is involved in the formation of gap junctions, which are channels that allow cells to communicate with each other. Mutations in the GJB2 gene disrupt the normal functioning of these channels, leading to the characteristic features of KID Syndrome.
Although there is currently no cure for KID Syndrome, treatment focuses on managing the individual symptoms. This may include the use of lubricating eye drops for keratitis, moisturizers and emollients for ichthyosis, and hearing aids or cochlear implants for deafness. Regular monitoring and follow-up with a team of healthcare professionals, including dermatologists, ophthalmologists, and audiologists, is important to ensure optimal management of the condition.
