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Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Nodose hair
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Your Question

I have monilethrix. My husband and I would like to start a family but we don't want to pass on the gene responsible for this condition. Is there anything that we can do to stop this from happening?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is monilethrix?

Monilethrix is a rare condition caused by a defect in the hair shaft resulting in hair which appears dry, dull, and brittle, and which breaks spontaneously or with mild trauma.  The age of onset, severity, and course may vary from person to person.[1]
Last updated: 1/30/2012

What causes monilethrix?

The cause of monilethrix remains unclear. To date, whether monilethrix is a disorder of the function or structure of the hair has not been determined. Some genetic studies suggest that monilethrix is likely caused by a mutation (change in a gene) in keratin (a type of protein found in the hair).[2] At least four genes have been found to cause this condition. Autosomal dominant monilethrix is caused by mutations in the hair cortex keratin genes KRT81, KRT83, or KRT86. The autosomal recessive form of monilethrix results from mutations in the desmoglein 4 (DSG4) gene.[3][4]

Last updated: 1/30/2012

How do people inherit monilethrix?

Monilethrix can be inherited in an autosomal dominant or autosomal recessive manner.[3][4] In autosomal dominant conditions, a single copy of the disease-associated mutation is enough to cause the disease. In many cases, an individual inherits the condition from a parent. In autosomal recessive conditions, two copies of the mutation, one from each parent, are needed to cause the disease. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Last updated: 1/30/2012

Is genetic testing for monilethrix clinically available?

GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. 
Last updated: 1/30/2012

Is there anything that can be done to avoid passing monilethrix to my offspring?

No consensus about prenatal diagnosis has yet been reached. For some of the more severe types, prenatal diagnosis may be requested and performed through chorionic villus sampling (CVS) or amniocentesis.[5]  

We recommend that you discuss these options and your concerns about passing on monilethrix to your offspring with a genetics professional. The following online resources can help you find a genetics professional in your community: 

Last updated: 1/30/2012