Menkes Syndrome

Alternative Names
steely hair disease; Menkes kinky hair syndrome; kinky hair disease

Definition
An inherited disorder that results in reduced absorption of copper
from the intestines.

Causes, incidence, and risk factors
Menkes syndrome is inherited as an X-linked recessive disorder. The
symptom is related to deficient levels of available copper.
Symptoms include progressive mental deterioration, kinked or twisted
brittle hair, and skeletal changes. Death usually occurs in the first few
years of life.

Symptoms
pudgy, rosy cheeks
floppy baby (hypotonia)
irritability
seizures
brittle, kinky hair
feeding difficulties
low body temperature
bone spurs

Signs
There is often a family history of Menkes syndrome.

Tests:
X-ray of the skeleton may show abnormal bone appearance
(Wormian bones and metaphyseal widening)
X-ray of the skull
serum copper level
serum ceruloplasmin level.

Treatment
No truly effective treatment is available for Menkes syndrome.
Injection of copper has been used with mixed results. Present therapy
consists of:
copper acetate administered into a vein (intravenously)
subcutaneous (injected under the skin) copper histidinate
Complications
Death usually occurs in the first few years of life.

Expectations (prognosis)
Menkes is a serious disorder with little effective of treatment.

Calling your health care provider
Consult with your health care provider if you have a family history of
Menkes syndrome and you plan to have children. A baby with this
condition will often show symptoms early in infancy.

Prevention
Genetic counseling is recommended for prospective parents with a
family history of Menkes syndrome.

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Notice: The information provided herein should not be used for
diagnosis or treatment of any medical condition. A licensed physician
should be consulted for diagnosis and treatment of any and all medical
conditions