Overview
Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare inherited condition that affects two main parts of the body: the brain and the eyes. 'Cerebellar hypoplasia' means that the cerebellum — the part of the brain that controls balance and coordination — did not fully develop before birth. 'Tapetoretinal degeneration' refers to the gradual breakdown of the retina, the light-sensitive layer at the back of the eye that allows us to see. Together, these problems cause a combination of movement difficulties and progressive vision loss. This condition is also sometimes referred to as cerebellar hypoplasia with retinal dystrophy or Joubert-related syndrome in some older medical literature, though it may overlap with or be distinct from other cerebellar-retinal syndromes. Babies and young children with this syndrome often show signs of poor muscle tone, delayed motor milestones, and unsteady movement early in life. Vision problems typically become noticeable in infancy or early childhood and tend to worsen over time. There is currently no cure for this syndrome. Treatment focuses on managing symptoms, supporting development, and slowing the impact of vision loss. A team of specialists — including neurologists, ophthalmologists, and physical therapists — work together to help affected individuals live as comfortably and independently as possible. Early diagnosis and intervention are important for the best possible outcomes.
Key symptoms:
Poor muscle tone (floppiness) in infancyDelayed motor milestones such as sitting, standing, and walkingUnsteady, wobbly gait and balance problemsProgressive loss of visionAbnormal eye movements (nystagmus)Reduced sensitivity to light or night blindnessIntellectual disability or developmental delaysPoor coordination of movements (ataxia)Small or underdeveloped cerebellum seen on brain scansRetinal degeneration detected on eye examination
Clinical phenotype terms (9)— 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 Cerebellar hypoplasia-tapetoretinal degeneration syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cerebellar hypoplasia-tapetoretinal degeneration 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 Cerebellar hypoplasia-tapetoretinal degeneration 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
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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.Which specific gene is causing this condition in my child, and what does that mean for other family members?,How quickly is the vision loss likely to progress, and what can we do to slow it down?,What therapies do you recommend, and how often should my child receive them?,Are there any clinical trials or research studies we should consider joining?,What signs should prompt me to seek emergency care?,What educational and community support services are available for my child?,Should other family members be tested for this condition?
Common questions about Cerebellar hypoplasia-tapetoretinal degeneration syndrome
What is Cerebellar hypoplasia-tapetoretinal degeneration syndrome?
Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare inherited condition that affects two main parts of the body: the brain and the eyes. 'Cerebellar hypoplasia' means that the cerebellum — the part of the brain that controls balance and coordination — did not fully develop before birth. 'Tapetoretinal degeneration' refers to the gradual breakdown of the retina, the light-sensitive layer at the back of the eye that allows us to see. Together, these problems cause a combination of movement difficulties and progressive vision loss. This condition is also sometimes referred to as
How is Cerebellar hypoplasia-tapetoretinal degeneration syndrome inherited?
Cerebellar hypoplasia-tapetoretinal degeneration syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cerebellar hypoplasia-tapetoretinal degeneration syndrome typically begin?
Typical onset of Cerebellar hypoplasia-tapetoretinal degeneration syndrome is infantile. Age of onset can vary across affected individuals.