OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome

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Overview

Neurosensory deafness-pituitary dwarfism syndrome, also known as sensorineural hearing loss with pituitary dwarfism, is an extremely rare genetic condition that combines two main problems: hearing loss caused by nerve damage in the inner ear (sensorineural deafness) and short stature caused by the pituitary gland not producing enough growth hormone (pituitary dwarfism). The pituitary gland is a small gland at the base of the brain that controls growth and many other body functions. When it does not work properly, children may grow much more slowly than expected. The hearing loss in this condition affects the nerves that carry sound signals from the ear to the brain, which is different from hearing loss caused by ear infections or structural problems in the outer ear. This condition is now listed as 'obsolete' in medical databases, meaning it may have been reclassified or merged with another diagnosis as medical understanding has advanced. Very few cases have been described in the medical literature. Treatment typically focuses on managing each symptom separately — hearing aids or cochlear implants for hearing loss, and growth hormone replacement therapy for short stature. Early diagnosis and intervention are important to support normal development in affected children.

Also known as:

Key symptoms:

Hearing loss present from birth or early childhoodSignificantly short stature compared to peersSlow growth rate during childhoodDelayed pubertyDifficulty hearing speech, especially in noisy environmentsDelayed speech and language developmentLow levels of growth hormonePossible delayed bone maturationSmall body proportions consistent with growth hormone deficiency

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome.

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No actively recruiting trials found for OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome at this time.

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No specialists are currently listed for OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome.

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Caregiver Resources

NORD Caregiver Resources

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

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

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

Questions for your doctor

Bring these to your next appointment

  • Q1.What specific hormone deficiencies does my child have, and how will they be treated?,How often will my child need growth hormone injections, and what is the expected improvement in height?,What type of hearing loss does my child have, and would hearing aids or cochlear implants be more appropriate?,Should we pursue genetic testing, and what would the results mean for our family?,What school accommodations should we request to support my child's learning?,How often should we schedule follow-up appointments with the endocrinologist and audiologist?,Are there other pituitary hormones we should monitor over time?

Common questions about OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome

What is OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome?

Neurosensory deafness-pituitary dwarfism syndrome, also known as sensorineural hearing loss with pituitary dwarfism, is an extremely rare genetic condition that combines two main problems: hearing loss caused by nerve damage in the inner ear (sensorineural deafness) and short stature caused by the pituitary gland not producing enough growth hormone (pituitary dwarfism). The pituitary gland is a small gland at the base of the brain that controls growth and many other body functions. When it does not work properly, children may grow much more slowly than expected. The hearing loss in this condit

How is OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome inherited?

OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome typically begin?

Typical onset of OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome is childhood. Age of onset can vary across affected individuals.