|
HealthTales.com |
|
| Index of Diseases and Conditions: A B C D E F G H I J K L M N O P Q R S T U V W X Y Z |
Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in an affected individual, it usually forms sometime after the onset of hearing loss, during late childhood, adolescence, or adulthood. In most cases, this enlargement does not cause the thyroid gland to malfunction.
Hearing loss is often evident at birth, but in some cases it does not develop until later in infancy or early childhood. Some affected individuals also have problems with balance. Additionally, abnormalities of the inner ear are common in Pendred syndrome. A structure called the vestibular aqueduct is unusually large in most people with this condition, but this abnormality does not cause the hearing loss. The vestibular aqueduct is a bony canal that connects the inner ear with a cavity in the brain.
This condition is a common form of syndromic deafness (hearing loss with additional signs and symptoms that affect other parts of the body). It probably accounts for more than 7 percent of all hearing loss that is present from birth (congenital). The exact incidence is unknown.
Mutations in the SLC26A4 gene cause Pendred syndrome.
The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles, particularly chloride and iodide, into and out of cells. Although the exact function of pendrin is not fully understood, it is important for the normal functions of the thyroid and inner ear. Mutations in the SLC26A4 gene alter the structure or function of pendrin, which disrupts the transport of negatively charged particles. Impaired pendrin activity in the thyroid and inner ear is responsible for the characteristic signs and symptoms of Pendred syndrome.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
'''Pendred syndrome''' or '''Pendred disease''' is a genetic disorder leading to sensorineural hearing loss and goitre with occasional hypothyroidism. It inherits in an autosomal recessive manner. It may account for 1-10% of all inherited causes of deafness. It has been linked to mutations in the ''PDS'' gene, which codes for the ''pendrin'' protein (solute carrier family 26, member 4, SLC26A4). The gene is located on the seventh chromosome (7q31). Mutations in the same gene also cause enlarged vestibular aqueduct syndrome, another congenital cause of deafness. The disease is eponym Dr Vaughan Pendred (1869-1946), the English general practice who first described the syndrome in 1896.
Pendred syndrome - A genetic condition associated with deafness and goiter.
Pendred Syndrome - An inherited autosomal recessive condition which consists of deafness from the time of birth and enlargement of the thyroid gland. From MedicineNet.
Cleary - UK family including information on Pendreds Syndrome.