National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pontocerebellar hypoplasia type 5


Other Names:
Olivopontocerebellar hypoplasia fetal-onset
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 166068

Definition
Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.

Epidemiology
PCH5 is reported in 3 siblings to date.

Clinical description
PCH5, clinically resembling PCH4 (see this term), is characterized by fetal onset of clonus or seizure-like episodes, microcephaly, cerebellar hypoplasia persisting in infancy and microencephaly leading to early postnatal death.

Etiology
PCH5 is caused by a compound heterozygosity for p.A307S plus splice site mutation in the gene. PCH5 transmission is autosomal recessive.

Diagnostic methods
Clinically similar to PCH4, PCH5 is demonstrated on autopsy. MRI demonstrates inferior olivary dysplasia, and pontocerebellar hypoplasia with the vermis much more degenerated than cerebellar hemispheres. Pathological findings show and increased degeneration with Purkinje and granule cells in the vermis.

Antenatal diagnosis
Antenatal diagnosis is possible by ultrasonic assessment of cerebellar width at 16-18 weeks gestation.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2013

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Congenital onset
Symptoms present at birth
0003577
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Olivopontocerebellar hypoplasia 0006955
Seizure 0001250
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pontocerebellar hypoplasia type 5. Click on the link to view a sample search on this topic.

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