Munson Health
 
Related Information
Menkes Syndrome

Back to Document

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 three 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 disease. NIH Office of Rate Diseases Research website. Available at: http://rarediseases.info.nih.gov/gard/1521/menkes-disease/resources/1 . Accessed July 25, 2013.


Menkes syndrome. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/menkes-syndrome . Updated March 2009. Accessed July 25, 2013.

 

Revision Information