Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Mulibrey Nanism


Other Names for this Disease

  • Muscle-liver-brain-eye nanism
  • Perheentupa syndrome
  • Pericardial constriction and growth failure
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1]
Last updated: 6/2/2011

References

  1. Mulibrey Nanism. NORD. April 12, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1040/viewAbstract. Accessed 6/2/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Mulibrey Nanism have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mulibrey Nanism. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Muscle-liver-brain-eye nanism
  • Perheentupa syndrome
  • Pericardial constriction and growth failure
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.