Overview
Early-onset progressive encephalopathy with hearing loss, pons hypoplasia, and brain atrophy syndrome is a very rare and serious brain disorder that begins in infancy or early childhood. The name describes the main features: 'encephalopathy' means the brain is not working properly, 'progressive' means it gets worse over time, 'pons hypoplasia' means a part of the brainstem called the pons did not develop fully, and 'brain atrophy' means the brain gradually shrinks. Hearing loss is also a core feature of this condition. This disease is sometimes referred to by its Orphanet code ORPHA:500144 and falls under the broader category of rare genetic brain development disorders. The condition affects the nervous system in multiple ways. Children with this syndrome typically show signs of significant developmental delay, meaning they are slow to reach milestones like sitting, walking, and talking. Seizures are common, and muscle tone problems — either too floppy or too stiff — are frequently seen. The hearing loss can range from mild to severe and is present from early in life. Currently, there is no cure for this condition. Treatment focuses on managing symptoms, supporting development as much as possible, and improving quality of life. This includes anti-seizure medications, hearing aids or cochlear implants for hearing loss, and therapies such as physical, occupational, and speech therapy. Care is typically provided by a team of specialists working together.
Key symptoms:
Significant intellectual disability and developmental delayProgressive worsening of brain function over timeHearing loss, often present from birth or early infancySeizures or epilepsyAbnormal muscle tone — muscles may be too floppy (hypotonia) or too stiff (spasticity)Underdeveloped brainstem (pons hypoplasia) seen on brain scansBrain shrinkage (atrophy) that worsens over timeDifficulty with movement and coordinationLimited or absent speech developmentFeeding difficulties in infancyVision problems in some casesSlow or absent head growth (microcephaly may develop)
Clinical phenotype terms (30)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Which specific mutation was found in the TBCK gene, and what does it mean for my child's prognosis?,What type of seizures does my child have, and which anti-seizure medication is most appropriate?,Should other family members be tested for this gene change, and what are the chances of having another affected child?,What therapies — physical, occupational, speech — should my child start, and how often?,Are there any clinical trials or research studies we could participate in?,What signs should prompt me to go to the emergency room immediately?,What support services and community resources are available for our family?
Common questions about Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
What is Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome?
Early-onset progressive encephalopathy with hearing loss, pons hypoplasia, and brain atrophy syndrome is a very rare and serious brain disorder that begins in infancy or early childhood. The name describes the main features: 'encephalopathy' means the brain is not working properly, 'progressive' means it gets worse over time, 'pons hypoplasia' means a part of the brainstem called the pons did not develop fully, and 'brain atrophy' means the brain gradually shrinks. Hearing loss is also a core feature of this condition. This disease is sometimes referred to by its Orphanet code ORPHA:500144 and
How is Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome inherited?
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome typically begin?
Typical onset of Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome is infantile. Age of onset can vary across affected individuals.