Chromosome 8, Monosomy 8p
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chromosome 8, Monosomy 8p is not the name you expected.
Chromosome 8, Monosomy 8p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the eighth chromosome. Associated symptoms and findings may vary greatly in range and severity from case to case. However, common features include growth deficiency; mental retardation; malformations of the skull and facial (craniofacial) region, such as a small head (microcephaly) and vertical skin folds that may cover the eyes' inner corners (epicanthal folds); heart (cardiac) abnormalities; and/or genital defects in affected males. Additional craniofacial features may also be present that tend to become less apparent with age, such as a short, broad nose; a low, wide nasal bridge; and/or a small jaw (micrognathia). In most cases, Chromosome 8, Monosomy 8p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons.
American Heart Association
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Chromosome Disorder Outreach, Inc.
- P.O. Box 724
- Boca Raton, FL 33429-0724
- Tel: (561)395-4252
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- Website: http://www.chromodisorder.org/
Craniofacial Foundation of America
- 975 East Third Street
- Chattanooga, TN 37403
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- Website: http://www.craniofacialfoundation.org/www
Genetic and Rare Diseases (GARD) Information Center
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- Gaithersburg, MD 20898-8126
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- Website: http://rarediseases.info.nih.gov/GARD/
March of Dimes
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UNIQUE - Rare Chromosome Disorder Support Group
- G1 The Stables
- Station Road West
- Oxted, RH8 9EE
- United Kingdom
- Tel: 0044 (0)1883 723356
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- Website: http://www.rarechromo.org/html/home.asp
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 4/8/2009
Copyright 2009 National Organization for Rare Disorders, Inc.
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