Munson Health
 
Menkes Syndrome

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by Badash M

(Kinky Hair Disease; Steely Hair Disease; Trichopoliodystrophy; X-linked Copper Deficiency; Copper Transport Disease)

 

Symptoms

Children with Menkes are often born prematurely. Symptoms usually begin within 3 months after birth and may include:
  • Seizures
  • Difficulty feeding
  • Developmental delays
  • Floppy muscle tone
Osteoporosis—Weakened Bone Matrix
Osteoporosis
Copyright © Nucleus Medical Media, Inc.
Babies with Menkes syndrome often exhibit the following physical characteristics:
  • Hair that is stubby, tangled, sparse, lacking in color, and easily broken
  • Chubby, rosy cheeks
  • Flattened bridge of the nose
  • Face lacking in expression
 

Diagnosis

The following tests may be done to diagnose Menkes syndrome:
  • X-ray of the skull and skeleton to look for abnormalities in bone formation
  • Blood tests to measure copper levels
 

RESOURCES

National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov

Office of Rare Diseases Research
http://rarediseases.info.nih.gov

 

CANADIAN RESOURCES

About Kids Health
http://www.aboutkidshealth.ca

Canadian Organization for Rare Disorders
http://www.cord.ca

 

References


Menkes syndrome. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/menkes-syndrome. Updated March 2009. Accessed August 18, 2014.


NINDS Menkes disease information page. National Institute of Neurological Disorders and Stroke. Available at: http://www.ninds.nih.gov/disorders/menkes/menkes.htm. Updated September 30, 2011. Accessed August 18, 2014.

 

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