Overview
Pontocerebellar hypoplasia type 10 (PCH10) is an extremely rare genetic brain disorder that affects the development of the brain, particularly the cerebellum (the part of the brain that controls movement and balance) and the pons (a part of the brainstem that connects the brain to the spinal cord). In this condition, these brain structures are smaller than normal, which is called hypoplasia. PCH10 is caused by mutations in the CLP1 gene, which plays an important role in processing genetic material (RNA) within cells. Babies with PCH10 typically show signs of the disease from birth or very early infancy. Common features include severe intellectual disability, seizures, problems with movement and muscle tone, very limited or absent speech development, and progressive shrinking (atrophy) of the brain over time. Many affected children also have difficulty feeding and may have vision problems. The condition is progressive, meaning symptoms tend to worsen over time. There is currently no cure for PCH10. Treatment is supportive and focuses on managing symptoms such as seizures, feeding difficulties, and movement problems. A team of specialists including neurologists, geneticists, and therapists work together to provide the best possible care and quality of life for affected children and their families.
Also known as:
Key symptoms:
Severe intellectual disabilitySeizures or epilepsySmall head size (microcephaly)Underdeveloped cerebellum and brainstemAbnormal muscle tone (too stiff or too floppy)Difficulty feeding or swallowingLittle or no speech developmentDelayed or absent motor milestonesProgressive brain shrinkageInvoluntary muscle movements or spasticityVision problemsBreathing difficultiesPoor growth
Clinical phenotype terms (27)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Pontocerebellar hypoplasia type 10.
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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 Pontocerebellar hypoplasia type 10.
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.What is the expected course of this condition for my child specifically?,What seizure medications are best suited, and what side effects should I watch for?,Should we consider a feeding tube, and when is the right time?,What therapies (physical, occupational, speech) would benefit my child most?,Are there any clinical trials or research studies we could participate in?,What genetic counseling is available for our family regarding future pregnancies?,What palliative care and family support services are available to us?
Common questions about Pontocerebellar hypoplasia type 10
What is Pontocerebellar hypoplasia type 10?
Pontocerebellar hypoplasia type 10 (PCH10) is an extremely rare genetic brain disorder that affects the development of the brain, particularly the cerebellum (the part of the brain that controls movement and balance) and the pons (a part of the brainstem that connects the brain to the spinal cord). In this condition, these brain structures are smaller than normal, which is called hypoplasia. PCH10 is caused by mutations in the CLP1 gene, which plays an important role in processing genetic material (RNA) within cells. Babies with PCH10 typically show signs of the disease from birth or very ear
How is Pontocerebellar hypoplasia type 10 inherited?
Pontocerebellar hypoplasia type 10 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pontocerebellar hypoplasia type 10 typically begin?
Typical onset of Pontocerebellar hypoplasia type 10 is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Pontocerebellar hypoplasia type 10?
16 specialists and care centers treating Pontocerebellar hypoplasia type 10 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.