Eye and hearing diseases
An inherited hearing loss disease. Most children have severe hearing loss from birth. In some, the thyroid gland in the neck becomes enlarged later on; this is called a goiter.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Eye and hearing diseases” group.
A change in a gene called SLC26A4 affects the inner ear and the thyroid gland. This gene makes a protein that carries small particles such as salts into cells. When the protein is faulty, the inner ear and thyroid do not develop correctly. A channel in the inner ear becomes wider; this is called an enlarged vestibular aqueduct.
Symptoms vary from person to person.
The ear, nose and throat doctor asks when the hearing loss began and how it has progressed. The inner ear is imaged with MRI or CT. A widened channel and a cochlea with fewer turns point to the diagnosis. A gene test on the blood supports the diagnosis.
There is no treatment specific to the disease, but there are ways to support people. Hearing and speech support started early is important. A hearing aid or a cochlear implant, which is a hearing device fitted with surgery, can be used. Avoiding blows to the head and sudden pressure changes helps protect hearing. The goiter is followed up regularly. The doctor who follows the disease decides which treatment is suitable.
The disease is passed on recessively. For a child to be affected, they must receive one faulty gene from the mother and one from the father. Carrier mothers and fathers have no symptoms. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. When parents are related by blood, the chance of two carriers having children together is higher. Genetic counselling guides the family.
Source: NIDCD (NIH): Pendred Syndrome · MedlinePlus Genetics: Pendred syndrome
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
SlovakiaDiagnosis and screening
In Slovakia, 37 patients with a widened inner ear canal or Pendred syndrome were studied.
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
ClinicalTrials.gov currently lists no active interventional studies for this disease. Last checked: October 7, 2026.
See all studies on ClinicalTrials.gov · Joining clinical trials
TürkiyeSGK and reimbursement
A drug used for a rare disease affecting the optic nerve has been added to reimbursement coverage.
USAResearch and clinical trials
A two-year, placebo-controlled study was carried out at 7 centers in the USA.
TürkiyeResearch and clinical trials
Gazi University studied the eyes of 27 children.
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:705 · ICD-11 5A00.02
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.