Mulibrey Nanism
Mulibrey Nanism
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.
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.
Human Growth Foundation
997 Glen Cove Avenue
Suite 5
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/
Hydrocephalus Association
4340 East West Highway Ste 950
Bethesda, MD 20814
USA
Tel: (301)202-3811
Fax: (301)202-3813
Tel: (888)598-3789
Email: info@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
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.heart.org
NIH/National Eye Institute
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/
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
Tel: (202)362-9599
Fax: (202)966-8553
Tel: (800)778-7171
Email: chdct@pxe.org
Internet: http://www.chdct2.org/
Hydrocephalus Support Group, Inc.
1933 Mistflower Glen Ct.
Chesterfield, MO 63005-4236
USA
Tel: (636)532-8228
Fax: (314)251-5871
Email: hydrob@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
Internet: http://rarediseases.info.nih.gov/GARD/
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
Suite 5
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/
Hydrocephalus Association
4340 East West Highway Ste 950
Bethesda, MD 20814
USA
Tel: (301)202-3811
Fax: (301)202-3813
Tel: (888)598-3789
Email: info@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
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.heart.org
NIH/National Eye Institute
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/
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
Tel: (202)362-9599
Fax: (202)966-8553
Tel: (800)778-7171
Email: chdct@pxe.org
Internet: http://www.chdct2.org/
Hydrocephalus Support Group, Inc.
1933 Mistflower Glen Ct.
Chesterfield, MO 63005-4236
USA
Tel: (636)532-8228
Fax: (314)251-5871
Email: hydrob@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
Internet: http://rarediseases.info.nih.gov/GARD/
