(Kinky Hair Disease; Steely Hair Disease; Trichopoliodystrophy; X-linked Copper Deficiency; Copper Transport Disease)
- Sex: male
- Family members with Menkes syndrome
- Difficulty feeding
- Developmental delays
- Floppy muscle tone
|Osteoporosis—Weakened Bone Matrix|
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- Hair that is stubby, tangled, sparse, lacking in color, and easily broken
- Chubby, rosy cheeks
- Flattened bridge of the nose
- Face lacking in expression
- X-ray of the skull and skeleton to look for abnormalities in bone formation
- Blood tests to measure copper levels
National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov
Office of Rare Diseases Research http://rarediseases.info.nih.gov
About Kids Health http://www.aboutkidshealth.ca
Canadian Organization for Rare Disorders http://www.cord.ca
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.
- Reviewer: Rimas Lukas, MD; Michael Woods, MD
- Review Date: 07/2013 -
- Update Date: 05/11/2013 -
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