Kaufmann and Kaufmann Autonomic Neuroscience

Familial dysautonomia, also known as Riley-Day syndrome and hereditary sensory and autonomic neuropathy (HSAN) type III, is an autosomal recessive disease that impairs the growth and development of some nerves. In over 99% of cases, the disease occurs because of mutations in the gene that encodes for I-k-B kinase complex associated protein (IKAP also called elongator-1) on the long arm of chromosome 9q. 

This rare genetic disorder was first described in New York City by the physician Conrad Riley and his colleague Richard Day in 1949. Population screening and prenatal diagnosis is now possible. 

The Center provides a comprehensive medical service for patients with FD.  We also conduct clinical research trials in FD. Learn more below.

Signs and Symptoms
Diagnosis
Genetic Testing
Adult Genetic Counseling
Treatment