Mulibrey Nanism

Is genetic testing available for mulibrey nanism?

Testing for the TRIM37 gene is available for carrier testing, confirming the diagnosis, and prenatal diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for mulibrey nanism. To view the contact information for the clinical laboratories conducting testing, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.

Last updated on 05-01-20

What is mulibrey nanism?

Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. Signs and symptoms of the disorder may include constrictive pericarditis; low birth weight; short stature; severe progressive growth delays; hypotonia; hepatomegaly; and yellow discoloration of the eyes in infancy. It is caused by mutations in the TRIM37 gene and is inherited in an autosomal recessive manner. Treatment may include surgery for constrictive pericarditis, medications for progressive heart failure and hormone replacement therapy.

Last updated on 05-01-20

Are individuals with mulibrey nanism infertile?

In a study published in the New England Journal of Medicine in 2004, the authors reported that their study indicates that premature ovarian failure and infertility ultimately develop in female patients with mulibrey nanism. A review of the available literature does not yield specific information about whether males with the disorder have infertility.

Last updated on 05-01-20

What is the prognosis and life expectancy for individuals with mulibrey nanism?

Differences in the nature and severity of the wide range of abnormalities and complications make it difficult to predict the course of the disorder in any one individual. Some individuals may be more mildly affected, while others experience severe complications. Episodes of respiratory failure induced by an infection, as well as congestive heart failure, have occurred in infants (in addition to older individuals) with the disorder and may cause early death. It has been suggested that constrictive pericarditis with restrictive cardiomyopathy, when present, plays a large part in the prognosis. Because the heart involvement is critical for the prognosis, early diagnosis is usually of major importance.

Last updated on 05-01-20

Name: Little People of America, Inc. 617 Broadway #518
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Name: American Heart Association 7272 Greenville Avenue
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Phone: 214-570-5978 Toll Free: 800-242-8721 Email: https://www.heart.org/en/forms/general-questions-and-latest-research-information Url: https://www.heart.org
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Toll Free: 1-800-451-6434 Fax : 516-671-4055 Email: hgf1@hgfound.org Url: http://www.hgfound.org/

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