Menkes syndrome or kinky hair syndrome, which is known as Menkes disease
The disorder was first described by John Hans Menkes in 1962
It is a rare disease usually occurs between six months and three years of age, due to neurological deterioration or poor feeding. Thus it is a fatal disorder
:causes
Usually it is caused by mutations in genes coding for the copper transport protein ATP7A, it could be described as a lethal multisystemic disorder of copper metabolism
:signs and symptoms
As copper levels are at the lowest, the body of babies with Menkes disease could endure
Kinky hair steely colored hair (which is the most remarkable symptom)_
nervous system deterioration_
growth failure_
Seizure and hypotonia (weak muscles)_
sagging facial features_
intellectual disability_
If the disease starts at the early days of birth, the infants could be treated with daily copper injections but this treatment is just supportive and symptomatic
Thus Menkes syndrome unfortunately can not be treated with medicines as it is inherited in an X_linked recessive pattern. However, the disease is more common in males than females who can be a carrier of the disease
