x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Joubert syndrome with oculorenal defect

Disease 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.

ORPHA:2318

Classification level: Disorder
  • Synonym(s):
    • Arima syndrome
    • CORS
    • Cerebellooculorenal syndrome
    • Dekaban-Arima syndrome
    • JS type B
    • JS-OR
    • Joubert syndrome with Senior-Loken syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3
  • OMIM: 243910  608091  610188  612285  614424  614465  614844
  • UMLS: C1855675
  • MeSH: -
  • GARD: 9455
  • MedDRA: -

Summary

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.

Expert reviewer(s):  Dr Francesco BRANCATI - Pr Bruno DALLAPICCOLA - Pr Enza Maria VALENTE - Last update: July 2011

Detailed information

Article for general public

Professionals

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.