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

Joubert syndrome with oculorenal anomalies


Other Names:
Arima syndrome; Cerebro-oculo-hepato-renal syndrome; Dekaban Arima syndrome; Arima syndrome; Cerebro-oculo-hepato-renal syndrome; Dekaban Arima syndrome; Chorioretinal coloboma with cerebellar vermis aplasia; Joubert syndrome 5; Joubert syndrome with bilateral chorioretinal coloboma; Cerebello-oculo-renal syndrome; CORS; Dekaban-Arima syndrome; Joubert syndrome with oculorenal defect; Joubert syndrome with Senior-Loken syndrome; JS type B; JS-OR; Cerebellooculorenal syndrome See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2318

Definition
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.

Epidemiology
Prevalence is unknown.

Clinical description
Patients present retinal involvement (manifesting with either Leber congenital amaurosis (LCA, see this term), or progressive retinal dystrophy) and nephronophthisis (NPH, usually juvenile). Retinal involvement is present at birth (LCA) or may manifest later in life. Juvenile NPH usually becomes clinically symptomatic towards the late first decade or the early second decade of life.

Etiology
About 50% of patients carry mutations in the CEP290 gene (12q21.33), transmitted in an autosomal recessive manner.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2011

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
80%-99% of people have these symptoms
Apnea 0002104
Ataxia 0001251
Cerebellar vermis hypoplasia 0001320
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Molar tooth sign on MRI 0002419
Muscular hypotonia
Low or weak muscle tone
0001252
Nephropathy 0000112
Retinal dystrophy
Breakdown of light-sensitive cells in back of eye
0000556
Tachypnea
Increased respiratory rate or depth of breathing
0002789
30%-79% of people have these symptoms
Autistic behavior 0000729
Biparietal narrowing 0004422
Blindness 0000618
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Iris coloboma
Cat eye
0000612
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] 		0000276
Low-set, posteriorly rotated ears 0000368
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Ptosis
Drooping upper eyelid
0000508
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology 0030680
Abnormality of neuronal migration 0002269
Abnormality of the hypothalamus-pituitary axis 0000864
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Aplasia/Hypoplasia of the corpus callosum 0007370
Encephalocele 0002084
Foot polydactyly
Duplication of bones of the toes
0001829
Hand polydactyly
Extra finger
0001161
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] 		0002553
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] 		0000426
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Scoliosis 0002650
Seizure 0001250
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Percent of people who have these symptoms is not available through HPO
Agenesis of cerebellar vermis 0002335
Aplasia/Hypoplasia of the cerebellar vermis 0006817
Autosomal recessive inheritance 0000007
Brainstem dysplasia 0002508
Dilated fourth ventricle 0002198
Dyspnea
Trouble breathing
0002094
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Gray matter heterotopia 0002282
Hepatic fibrosis 0001395
Hepatic steatosis
Fatty infiltration of liver
Fatty liver
[ more ] 		0001397
Hepatomegaly
Enlarged liver
0002240
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem
[ more ] 		0002365
Intellectual disability, progressive
Mental retardation, progressive
Progressive mental retardation
[ more ] 		0006887
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Nephronophthisis 0000090
Occipital meningocele 0002436
Polycystic kidney dysplasia 0000113
Postaxial foot polydactyly
Extra toe attached near the little toe
0001830
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] 		0001162
Psychomotor retardation 0025356
Renal corticomedullary cysts 0000108
Renal tubular atrophy 0000092
Stage 5 chronic kidney disease 0003774
Tubulointerstitial fibrosis 0005576
Undetectable electroretinogram 0000550
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
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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

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Joubert syndrome with oculorenal anomalies. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Joubert syndrome with oculorenal anomalies. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Joubert syndrome with oculorenal anomalies:
    JS-LIFE (Joubert Syndrome Link to Information & Family Exchange)
     

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

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

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.

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 Joubert syndrome with oculorenal anomalies. Click on the link to view a sample search on this topic.

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