Menkes disease
Menkes disease
Definition
A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
Also known as kinky hair disease, kinky hair syndrome, MD, Menkes disease, menkes disease, X-linked recessive, Menkes kinky hair syndrome, Menkes kinky-hair syndrome, Menkes syndrome, Mk, MNK, steely hair disease, Trichopoliodystrophy, X-linked copper deficiency — per MONDO