Mulibrey Nanism

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Mulibrey Nanism is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Muscle-liver-brain Nanism
  • Pericardial Constriction and Growth Failure
  • Perheentupa Syndrome

Disorder Subdivisions

  • None

General Discussion

Mulibrey nanism is an extremely rare autosomal recessive 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. A characteristic feature not included in the original acronym is the overgrowth of the fibrous sac that surrounds the heart restricting normal filling of the heart (constrictive pericarditis). Characteristic symptoms may include low birth weight, short stature, and severe progressive growth delays. Muscles are usually underdeveloped and lack normal tone (hypotonia). Some infants with this disorder may have an abnormally large liver (hepatomegaly). Infants typically have yellow discoloration in their eyes.

Resources

Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
Tel: (516)671-4041
Fax: (516)671-4055
Tel: (800)451-6434
Email: hgf1@hgfound.org
Internet: http://www.hgfound.org/

Little People's Research Fund, Inc.
616 Old Edmondson Avenue
2nd Floor
Catonsville, MD 21228-3305
USA
Tel: (410)747-1100
Fax: (410)747-1374
Tel: (800)232-5773
Email: lprf@lprf.org
Internet: http://www.lprf.org

Hydrocephalus Association
870 Market Street
Suite 705
San Francisco, CA 94102
USA
Tel: (415)732-7040
Fax: (415)732-7044
Tel: (888)598-3789
Email: pip@hydroassoc.org
Internet: http://www.hydroassoc.org

Little People of America, Inc.
250 El Camino Real
Suite 201
Tustin, CA 92780
Tel: (714)368-3689
Fax: (714)368-3367
Tel: (888)572-2001
Email: info@lpaonline.org
Internet: http://www.lpaonline.org

American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.americanheart.org

NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda, MD 20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
Email: 2020@nei.nih.gov
Internet: http://www.nei.nih.gov/

Hydrocephalus Support Group, Inc.
P.O. Box 4236
Chesterfield, MO 63006-4236
USA
Tel: (636)532-8228
Fax: (314)251-5871
Email: hydrodb@earthlink.net

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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