Saturday, February, 11, 2012

Menkes syndrome

Table of Contents

Alternative Names

Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease


Symptoms
  • Bone spurs
  • Brittle, kinky hair
  • Feeding difficulties
  • Irritability
  • Lack of muscle tone, floppiness (hypotonia)
  • Low body temperature
  • Mental deterioration
  • Pudgy, rosy cheeks
  • Seizures
  • Skeletal changes

Signs and tests

There is often a history of Menkes syndrome in a male relative.

Signs include:

  • Abnormal appearance of the hair under the microscope
  • Abnormally low body temperature
  • Bleeding in the brain
  • Slow growth in the womb

In males, all of the hairs will be abnormal. In females who carry this trait, only half of the hairs may be abnormal.

Tests include:

  • Serum ceruloplasmin
  • Serum copper level
  • Skin cell (fibroblast) culture
  • X-ray of the skeleton or x-ray of the skull

Genetic testing may show a change (mutation) in the ATP7A gene.


Review Date: 04/15/2009
Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)