Cochlear nerve deficiency

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2Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Cochlear nerve deficiency (CND), also called cochlear nerve aplasia or cochlear nerve hypoplasia, is a condition where the cochlear nerve — the nerve that carries sound signals from the inner ear to the brain — is either missing, very small, or underdeveloped. This nerve is essential for hearing, so when it is absent or too thin to work properly, it causes significant hearing loss, usually from birth. The hearing loss is typically severe to profound, meaning a child may hear very little or nothing at all in the affected ear or ears. CND can affect one ear (unilateral) or both ears (bilateral). The condition is usually discovered during newborn hearing screening or when parents notice their child is not responding to sounds. Doctors confirm the diagnosis using special MRI scans that can show whether the cochlear nerve is present and how large it is. CND is one of the more common causes of permanent hearing loss found on inner ear imaging in children. Treatment focuses on helping the child communicate and develop language. Hearing aids are often tried first, but because the nerve itself is the problem, they may not help much. Cochlear implants are a common option, though their success depends on how much nerve tissue is present. Auditory brainstem implants (ABIs) may be considered in some cases. Early speech therapy and educational support are very important for language development.

Key symptoms:

Severe to profound hearing loss from birthLittle or no response to sounds or voicesDelayed speech and language developmentDifficulty understanding spoken wordsHearing loss in one or both earsFailure of newborn hearing screeningNo improvement with hearing aids in some cases

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Cochlear nerve deficiency.

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No actively recruiting trials found for Cochlear nerve deficiency at this time.

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Specialists

2 foundView all specialists →
LP
Laurie S. Eisenberg, PhD
AGOURA HILLS, CA
Specialist
PI on 1 active trial
EM
Eric Wilkinson, MD
Specialist
PI on 2 active trials

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Cochlear nerve deficiency.

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Community

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Latest news about Cochlear nerve deficiency

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Is the cochlear nerve completely absent or just smaller than normal, and what does that mean for my child's treatment options?,Would my child benefit from a cochlear implant, and how do we predict how well it might work?,Should we consider genetic testing to find out why this happened and whether it could affect other family members?,What communication approach — spoken language, sign language, or both — is best for my child right now?,What early intervention services and therapies should we start as soon as possible?,Are there any other health conditions we should watch for that are sometimes linked to cochlear nerve deficiency?,What does the long-term educational and communication outlook look like for a child with this level of cochlear nerve involvement?

Common questions about Cochlear nerve deficiency

What is Cochlear nerve deficiency?

Cochlear nerve deficiency (CND), also called cochlear nerve aplasia or cochlear nerve hypoplasia, is a condition where the cochlear nerve — the nerve that carries sound signals from the inner ear to the brain — is either missing, very small, or underdeveloped. This nerve is essential for hearing, so when it is absent or too thin to work properly, it causes significant hearing loss, usually from birth. The hearing loss is typically severe to profound, meaning a child may hear very little or nothing at all in the affected ear or ears. CND can affect one ear (unilateral) or both ears (bilateral).

At what age does Cochlear nerve deficiency typically begin?

Typical onset of Cochlear nerve deficiency is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Cochlear nerve deficiency?

2 specialists and care centers treating Cochlear nerve deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.