Joubert Syndrome and Related Cerebellar Disorders (JSRD) Information Sheets 

Do you have to regularly explain what Joubert syndrome is to doctors?  Does your child have the ‘molar tooth malformation’, but received a diagnosis of a condition other than Joubert syndrome?   Have you ever wondered, “What exactly is a ‘related cerebellar disorder’?”   

The JSF&RCD is pleased to announce that information sheets on Joubert syndrome, COACH syndrome, Senior-Løken syndrome and Cogan-type Oculomotor Apraxia (OMA) are now available.  Dr. Melissa Parisi and Nadine Phillips developed the information sheets with input from the scientific advisory board to help families and medical professionals better understand these rare disorders.   

Each information sheet provides a brief explanation of commonly-associated features, the genetic basis of each condition, and a partial listing of additional resources for families. 

To see these documents, please click on the appropriate link for that specific syndrome/disorder: 

COACH Syndrome

Cogan-type Oculomotor Apraxia (OMA)

Joubert Syndrome

Senior-Løken Syndrome 

Dekaban-Arima syndrome

Varadi-Papp syndrome

Juvenile Nephronophthisis