Thickened earlobes-conductive deafness syndrome

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Thickened earlobes-conductive deafness syndrome
Autosomal dominant - en.svg
Synonyms
Pronounce
Specialty Medical genetics
Symptoms Thickened earlobes, conductive hearing loss
Complications N/A
Onset
Duration
Types
Causes Genetic mutation
Risks
Diagnosis Clinical diagnosis, genetic testing
Differential diagnosis
Prevention
Treatment Hearing aids, surgical intervention
Medication
Prognosis
Frequency
Deaths


Thickened Earlobes-Conductive Deafness Syndrome is a rare genetic disorder characterized by the presence of thickened earlobes and conductive deafness. The syndrome is believed to be inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the disorder onto their offspring.

Symptoms

The primary symptoms of Thickened Earlobes-Conductive Deafness Syndrome are thickened earlobes and conductive deafness. Conductive deafness is a type of hearing loss that occurs when sound is not conducted efficiently through the outer ear canal to the eardrum and the tiny bones, or ossicles, of the middle ear. This can result in a reduced ability to hear faint sounds and can make loud sounds seem muffled.

Causes

The exact cause of Thickened Earlobes-Conductive Deafness Syndrome is currently unknown. However, it is believed to be a genetic disorder, inherited in an autosomal dominant manner. This means that the disorder can be passed on by just one parent who has the disorder.

Diagnosis

Diagnosis of Thickened Earlobes-Conductive Deafness Syndrome is typically based on the presence of the characteristic symptoms, including thickened earlobes and conductive deafness. Additional tests, such as genetic testing, may be used to confirm the diagnosis and identify the specific genetic mutation responsible for the disorder.

Treatment

Treatment for Thickened Earlobes-Conductive Deafness Syndrome is typically focused on managing the symptoms of the disorder. This may include the use of hearing aids to improve hearing, and surgical intervention to correct any physical abnormalities of the ear.

See Also






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Contributors: Prab R. Tumpati, MD