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"Resources" on this report.
Copyright 1986, 1992, 1994, 2000, 2001, 2004
Synonyms of Trisomy 18 Syndrome
- Chromosome 18, Trisomy 18 Complete
- Complete Trisomy 18 Syndrome
- Edward's Syndrome
- Trisomy E Syndrome
Disorder Subdivisions
General Discussion
Trisomy 18 syndrome is a rare chromosomal disorder in which all or a critical region of chromosome 18 appears three times (trisomy) rather than twice in cells of the body. In some cases, the chromosomal abnormality may be present in only a percentage of cells, whereas other cells contain the normal chromosomal pair (mosaicism).
Depending on the specific location of the duplicated (trisomic) portion of chromosome 18--as well as the percentage of cells containing the abnormality--symptoms and findings may be extremely variable from case to case. However, in many affected infants, such abnormalities may include growth deficiency, feeding and breathing difficulties, developmental delays, mental retardation, and, in affected males, undescended testes (cryptorchidism). Individuals with trisomy 18 syndrome may also have distinctive malformations of the head and facial (craniofacial) area, such as a prominent back portion of the head; low-set, malformed ears; an abnormally small jaw (micrognathia); a small mouth with an unusually narrow roof (palate); and an upturned nose. Affected infants may also have narrow eyelid folds (palpebral fissures), widely spaced eyes (ocular hypertelorism), and drooping of the upper eyelids (ptosis). Malformations of the hands and feet are also often present, including overlapped, flexed fingers; webbing of the second and third toes; and a deformity in which the heels are turned inward and the soles are flexed (clubfeet [talipes equinovarus]). Infants with trisomy 18 syndrome may also have a small pelvis with limited movements of the hips, a short breastbone (sternum), kidney malformations, and structural heart (cardiac) defects at birth (congenital). Such cardiac defects may include an abnormal opening in the partition dividing the lower chambers of the heart (ventricular septal defect) or persistence of the fetal opening between the two major arteries (aorta, pulmonary artery) emerging from the heart (patent ductus arteriosus). Congenital heart defects and respiratory difficulties may lead to potentially life-threatening complications during infancy or childhood.
Organizations related to Trisomy 18 Syndrome
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Birth Defect Research for Children, Inc.
800 Celebration Ave, Suite 225
Orlando FL 34747
Phone #: 407-566-8304
800 #: --
e-mail: staff@birthdefects.org
Home page: http://www.birthdefects.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto CA 94303
Phone #: 650-462-3143
800 #: 877-735-2929
e-mail: info@letthemhear.org
Home page: http://www.letthemhear.org
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- National Consortium on Deaf-Blindness (NCDB)
The Teaching Research Institute
Western Oregon University
345 N. Monmouth Ave.
Monmouth OR 97361
Phone #: 800-438-9376
800 #: 800-438-9376
e-mail: info@nationaldb.org
Home page: http://www.nationaldb.org
- Perkins School for the Blind
175 North Beacon St.
Watertown MA 02472
Phone #: 617-924-3434
800 #: N/A
e-mail: Info@Perkins.org
Home page: http://www.Perkins.org
- Support Organization for Trisomy 13/18 and Related Disorders, UK
c/o Christine Rose
48 Froggatts Ride
Walmley
Sutton Coldfield
West Midlands Intl B76 2TQ SOFT
Phone #: 012-1-3-51-3122
800 #: --
e-mail: enquiries@soft.org.uk
Home page: http://www.soft.org.uk
- Support Organization for Trisomy 18, 13, and Related Disorders
2982 South Union Street
Rochester NY 14624-1926
Phone #: N/A
800 #: 800-716-7638
e-mail: barbv@trisomy.org
Home page: http://www.trisomy.org
- UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Caterham
Surrey Intl CR3 5GN
Phone #: 44 -0 1-883 330766
800 #: --
e-mail: info@rarechromo.org
Home page: http://www.rarechromo.org
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