Chromosome 7, Partial Monosomy 7p
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chromosome 7, Partial Monosomy 7p 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.
- 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
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.
Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
Support Organization for Trisomy 18, 13, and Related Disorders
2982 S. Union Street
Rochester, NY 14624-1926
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
1825 K Street NW, Suite 1200
Washington, DC 20006
PO Box 751112
Las Vegas, NV 89136
Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton, FL 33429-0724
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231
UNIQUE - Rare Chromosome Disorder Support Group
The Rare Chromosome Disorder Support Group
G1 The Stables
Station Road West, Oxted
Surrey, RH8 9EE
Email: firstname.lastname@example.org or email@example.com
Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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 firstname.lastname@example.org
Last Updated: 4/10/2009
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