Chromosome 4, Monosomy Distal 4q

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Chromosome 4, Monosomy Distal 4q 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

  • 4q Deletion Syndrome, Partial
  • Chromosome 4, 4q Terminal Deletion Syndrome
  • Chromosome 4, Partial Monosomy 4q
  • Del(4q) Syndrome, Partial
  • Distal 4q Monosomy
  • Distal 4q- Syndrome

Disorder Subdivisions

  • None

General Discussion

Chromosome 4, Monosomy Distal 4q is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 4th chromosome. Associated symptoms and findings may be variable, depending upon the specific length and location of the deleted portion of chromosome 4. However, characteristic features include growth deficiency after birth (postnatal growth retardation), varying degrees of mental retardation, malformations of the skull and facial (craniofacial) region, structural heart defects, abnormalities of the hands and feet, and/or other physical findings. Chromosome 4, Monosomy Distal 4q usually appears to result from spontaneous (de novo) errors very early during embryonic development that occur for unknown reasons (sporadically).

Supporting Organizations

AmeriFace

PO Box 751112
Las Vegas, NV 89136
USA
Tel: (702)769-9264
Fax: (702)341-5351
Tel: (888)486-1209
Email: info@ameriface.org
Website: http://www.ameriface.org

American Cleft Palate-Craniofacial Association

1504 East Franklin Street
Suite 102
Chapel Hill, NC 27514-2820
USA
Tel: (919)933-9044
Fax: (919)933-9604
Tel: (800)242-5338
Email: info@cleftline.org
Website: http://www.cleftline.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
Website: http://www.heart.org

Children's Craniofacial Association

13140 Coit Road
Suite 517
Dallas, TX 75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643
Email: contactCCA@ccakids.com
Website: http://www.ccakids.com

Chromosome Disorder Outreach, Inc.

P.O. Box 724
Boca Raton, FL 33429-0724
USA
Tel: (561)395-4252
Fax: (561)395-4252
Email: info@chromodisorder.org
Website: http://www.chromodisorder.org/

Craniofacial Foundation of America

975 East Third Street
Chattanooga, TN 37403
Tel: (423)778-9176
Fax: (423)778-8172
Tel: (800)418-3223
Email: terry.smyth@erlanger.org
Website: http://www.craniofacialfoundation.org/www

FACES: The National Craniofacial Association

PO Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373
Email: faces@faces-cranio.org
Website: http://www.faces-cranio.org

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
Website: http://rarediseases.info.nih.gov/GARD/

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Website: http://www.marchofdimes.com

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

Wide Smiles

P.O. Box 5153
Stockton, CA 95205-0153
USA
Tel: (209)942-2812
Fax: (209)464-1497
Email: josmiles@yahoo.com
Website: http://www.widesmiles2.org/

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 orphan@rarediseases.org

Last Updated:  1/11/1970
Copyright  2009 National Organization for Rare Disorders, Inc.