Nathalie syndrome
Nathalie syndrome
Definition
Nathalie syndrome is characterized by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.
Also known as deafness-cataract-skeletal anomalies syndrome, deafness-cataracts-skeletal anomalies syndrome, Nathalie syndrome, sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome — per MONDO