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