Nathalie syndrome
ORPHA:2663· ICD-10 Q87.8
Definition
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood