- Cerebelloparenchymal disorder 4
- Cerebellar vermis agenesis
- Joubert-Boltshauser syndrome
Tests & Diagnosis
The diagnosis of "classic" or “pure” Joubert syndrome is based on the presence of the following three primary criteria:
- the molar tooth sign on MRI
- hypotonia (weak muscle tone) in infancy with later development of ataxia
- developmental delays / intellectual disability
Additional features often identified in people with Joubert syndrome include an abnormal breathing pattern (alternating tachypnea and/or apnea) and abnormal eye movements.
The term “Joubert syndrome and related disorders” (JSRD) refers to those with Joubert syndrome who have additional findings such as retinal dystrophy, renal (kidney) disease, ocular colobomas, occipital encephalocele (protruding tissue at the back of the skull), fibrosis of the liver, polydactyly, and/or other abnormalities. A significant proportion of people diagnosed with classic Joubert syndrome in infancy or early childhood will eventually have additional findings that represent JSRD.
- Melissa Parisi and Ian Glass. Joubert Syndrome and Related Disorders. GeneReviews. April 11, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1325/.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.