Joubert syndrome with oculorenal anomalies

Title

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:

Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases; Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases; Nervous System Diseases See More

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 2318

Disease definition

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) 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: 7/7/2011

Symptoms Symptoms

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		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	Abnormal curving of the spine	0002650
Seizures	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
Hepatic fibrosis		0001395
Hepatic steatosis	Fatty infiltration of liver Fatty liver [ more ]	0001397
Hepatomegaly	Enlarged liver	0002240
Heterotopia		0002282
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
Renal corticomedullary cysts		0000108
Stage 5 chronic kidney disease		0003774
Tubular atrophy		0000092
Tubulointerstitial fibrosis		0005576
Undetectable electroretinogram		0000550
Wide mouth	Broad mouth Large mouth [ more ]	0000154

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/2/2018

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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.

Organizations Organizations

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

Joubert Syndrome & Related Disorders Foundation
414 Hungerford Dr., Suite 252
Rockville, MD 20850
Telephone: 614-864-1362
E-mail: http://www.joubertfoundation.com/ContactUs.asp
Website: http://www.joubertfoundation.com/

Do you know of an organization? We want to hear from you.

Living With Living With

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

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

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.

News & Events News & Events

NCATS Co-Sponsored Conferences

Gordon Research Conference (GRC): Cilia, Mucus and Mucociliary Interactions Sunday, February 8, 2015 - Friday, February 13, 2015
Location: Hotel Galvez, Galveston, TX
Description: The aims of the meeting are three fold: (1) To disseminate, discuss and integrate cutting-edge data related to progress in cilia, mucus and mucociliary interactions in a forum of world experts and young scientists. Each area will embrace advances in fundamental cell and molecular biology, development, novel imaging techniques, new animal models, and genetic discovery. Attendees will be able to use this information to improve their own understanding to advance their own work, teaching and to be stimulated for new discoveries in these areas. (2) To provide a forum that will link fundamental scientific knowledge related to cilia, mucus, and mucociliary interactions to human disease and avenues for diagnosis and therapies. Thereby, drive new collaborations, technologies and interactions among basic, translational, and clinical researchers related to gene function in diseases of cilia, mucins, mucosal immunity, disease diagnosis and treatment. (3) To promote involvement and advancement of trainees, women and under-represented groups in the study of cilia, mucus and mucociliary interactions. To assure a strong and equitable representation of women, minorities, young investigators (junior faculty, pre-doctoral, post-doctoral trainees) and those with disabilities through sound proactive planning and organization, we will invite and feature young investigators and trainees. The meeting format is designed to enhance the interaction of trainees and senior investigators.

Contact: Robert A. Smith, Ph.D.,(301) 435-0202, robert.smith4@nih.gov

Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research

Other Conferences

Joubert Syndrome & Related Disorders Foundation
10th Biennial Conference
July 13-16, 2011
Orlando Florida

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