nathalie syndrome nathalie syndrome nathalie syndrome is a rare genetic developmental defect during embryogenesis disorder and is thought to be hereditary. nathalie syndromeother namesdeafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristicssymptomssensorial hearing loss, childhood onset cataracts, cardiac abnormalities, skeletal abnormalities underdeveloped secondary sex characteristics, spinal muscular atrophy, growth retardation in 1975 a physician described four siblings in a dutch family with symptoms of the condition; the condition was named after the oldest sibling. according to orphanet, the condition occurs in 1 in 1 million people. children with this condition appear younger than their age. nathalie syndrome can cause disability and death around early or mid adulthood. sudden death, cardiomyopathy, and heart failure have been reported in some cases.