Menkes disease
ORPHA:565· ICD-10 E83.0
Definition
A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair.
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal