Important It is possible that the main title of the report Chromosome 7, Partial Monosomy 7pis not the name you expected.
Synonyms
Chromosome 7, 7p Deletion Syndrome, Partial
Chromosome 7, Partial Deletion of Short Arm
Terminal 7p Monosomy, Included
Del(7p) Syndrome, Partial
Interstitial 7p Monosomy, Included
Partial 7p Monosomy
Disorder Subdivisions
None
General Discussion
Chromosome 7, Partial Monosomy 7p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the short arm (p) of chromosome 7 (7p). Associated symptoms and findings may be variable and may depend on the specific size and location of the deleted segment of 7p. However, in many cases, there is early closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), resulting in an abnormally shaped head. For example, depending on the specific sutures involved, the forehead may appear unusually "triangular shaped" (trigonocephaly) or the head may seem abnormally long and narrow with the top pointed or conical (turricephaly). Affected infants and children may also have additional malformations of the skull and facial (craniofacial) region. Such abnormalities may include an unusually small head (microcephaly), closely or widely set eyes (ocular hypotelorism or hypertelorism), downslanting eyelid folds (palpebral fissures), and/or other findings.
Partial Monosomy 7p may also be characterized by additional physical features, such as growth deficiency, musculoskeletal abnormalities, genital defects, structural malformations of the heart that are present at birth (congenital heart defects), and/or other abnormalities. In addition, some affected individuals may have varying degrees of mental retardation and delays in the acquisition of skills requiring the coordination of mental and motor activities (psychomotor delays). Normal intelligence has also been reported.
In most cases, Chromosome 7, Partial Monosomy 7p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons. .
Resources
Children's Craniofacial Association 13140 Coit Road Suite 517 Dallas, TX 75240 USA Tel: 2145709099 Fax: 2145708811 Tel: 8005353643 Email: csmith@ccakids.com Internet: http://www.ccakids.com
Support Organization for Trisomy 18, 13, and Related Disorders 2982 South Union Street Rochester, NY 14624-1926 Fax: (585)594-1957 Tel: (800)716-7638 Email: barbv@trisomy.org Internet: http://www.trisomy.org
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)428-7100 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
FACES: The National Craniofacial Association P.O. Box 11082 Chattanooga, TN 37401 Tel: (423)266-1632 Fax: (423)267-3124 Tel: (800)332-2373 Email: faces@faces-cranio.org Internet: http://www.faces-cranio.org
The Arc (a national organization on mental retardation) 1010 Wayne Ave Suite 650 Silver Spring, MD 20910 Tel: (301)565-3842 Fax: (301)565-3843 Tel: (800)433-5255 TDD: (817)277-0553 Email: info@thearc.org Internet: http://www.thearc.org/
AmeriFace PO Box 751112 Las Vegas, NV 89136 USA Tel: 7027699264 Fax: 7023415351 Tel: 8884861209 Email: info@ameriface.org Internet: http://www.ameriface.org
Chromosome Disorder Outreach, Inc. P.O. Box 724 Boca Raton, FL 33429-0724 USA Tel: 5613954252 Fax: 5613954252 Email: info@chromodisorder.org Internet: http://www.chromodisorder.org
American Heart Association National Center 7272 Greenville Avenue Dallas, TX 75231-4596 Tel: (214)373-6300 Fax: (214)373-0268 Tel: (800)242-8721 Email: inquire@heart.org Internet: http://www.americanheart.org
Craniofacial Foundation of America 975 East Third Street Chattanooga, TN 37403 Tel: (423)778-9192 Fax: (423)778-8172 Tel: (800)418-3223 Email: farmertm@erlanger.org Internet: http://www.craniofacialcenter.com
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. (r) (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
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 4/17/2008 Copyright 1996, 2001, 2003National Organization for Rare Disorders, Inc.
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