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Chromosome 11, Partial Monosomy 11q


National Organization for Rare Disorders, Inc.

Synonyms

  • Jacobsen Syndrome
  • JBS
  • Deletion 11q Syndrome, Partial
  • Distal 11q- Syndrome
  • Distal 11q Monosomy
  • 11q- Syndrome, Partial
  • Monosomy 11q, Partial
  • Partial Monosomy of Long Arm of Chromosome 11

Disorder Subdivisions

  • None

Related Disorders List

Information on the following diseases can be found in the Related Disorders section of this report:

  • Chromosome 11 Ring
  • C Syndrome
  • Chromosomal Disorders (General)

General Discussion

Chromosome 11, Partial Monosomy 11q is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 11 is missing (deleted or monosomic). The range and severity of symptoms may vary, depending upon the exact size and location of the deletion on 11q. Chromosome 11, Partial Monosomy 11q may be characterized by abnormally slow growth before and after birth (prenatal and postnatal growth retardation), mental retardation, and/or moderate to severe delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation). Characteristic physical abnormalities may include malformations of the head and facial (craniofacial) area, abnormalities of the eyes, malformations of the hands and/or feet, and/or defects of the heart. The exact cause of Chromosome 11, Partial Monosomy 11q is not fully understood.

Symptoms

In Chromosome 11, Partial Monosomy 11q, a rare chromosomal disorder, a portion of the long arm (q) of chromosome 11 is missing (deleted). Symptoms and physical characteristics associated with the disorder may vary, depending upon the exact size and location of the deletion (monosomy) on chromosome 11q.

In many cases, Chromosome 11, Partial Monosomy 11q may be characterized by abnormally slow growth both before and after birth (prenatal and postnatal growth retardation). Affected infants and children may also exhibit moderate to severe mental retardation and mild to profound delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation). For example, in most cases, affected children experience severe speech impairment.

Many infants with Chromosome 11, Partial Monosomy 11q may exhibit characteristic abnormalities of the head and facial (craniofacial) area. In most cases, the fibrous joints (metopic sutures) between the two sides of the bone in the forehead (frontal bone) may close prematurely (craniosynostosis). As a result, the head may have an unusual "triangular-shaped" appearance with an abnormally prominent forehead (trigonocephaly). Affected children with trigonocephaly may be at risk for abnormal development of the forebrain (holoprosencephaly). (For more information on this condition, choose "Holoprosencephaly" as your search term in the Rare Disease Database.) In some cases, the head may also be abnormally small (microcephaly) and/or the back of the head (occiput) may appear flat. Affected infants with Chromosome 11, Partial Monosomy 11q may also have an abnormally short, broad, upturned nose; wide, depressed nasal bridge; thin lips; down-turned mouth; small lower jaw (micrognathia); and/or low-set, malformed (dysplastic) ears.

Many infants and children with Chromosome 11, Partial Monosomy 11q also exhibit various eye (ocular) abnormalities. These may include widely spaced eyes (ocular hypertelorism), drooping of the upper eyelids (ptosis), and/or the presence of vertical skin folds on either side of the nose (epicanthal folds) that may partially cover the eyes' inner corners. In some cases, additional eye abnormalities may be present including a downward-slanting opening between the upper and lower eyelids (palpebral fissures), crossed eyes (strabismus), improper development of the nerve-rich membrane lining the eye (retinal dysplasia), and/or absence of some tissue from the colored portion of the eye (iris coloboma), giving the iris a "keyhole" appearance. Such eye abnormalities may result in varying degrees of visual impairment. The extent of visual impairment depends upon the severity and/or combination of eye abnormalities present.

In many cases, infants with Partial Monosomy 11q may also have abnormalities of the hands and feet. Such malformations may include minor webbing of the fingers and/or toes (syndactyly); incomplete development of the bones at the ends of the fingers and/or toes, causing the hands and feet to appear abnormally short (hypoplastic terminal phalanges); the presence of a single, deep crease across the palms of the hands (simian crease); permanent flexion of the great toe, giving it a "clawlike" appearance ("hammertoe"); and/or malformation of the foot in an abnormally twisted position (talipes equinovarus or clubfoot). In addition, in many cases, certain joints may become fixed in a permanently flexed position (joint contracture).

Over 50 percent of infants with Chromosome 11, Partial Monosomy 11q may also exhibit heart abnormalities at birth (congenital heart defects). The most common congenital heart defects associated with Partial Monosomy 11q are Ventricular Septal Defects (VSDs).

The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricles. The aorta, the main vessel of arterial circulation, carries blood from the left ventricle and away from the heart.

Ventricular Septal Defects (VSDs) can occur in any portion of the ventricular septum. The size and location of the defect determine the severity of the symptoms. Small Ventricular Septal Defects may close on their own (spontaneously) or become less significant as the child matures and grows. Moderately-sized defects may affect the ability of the heart to pump blood efficiently to the lungs and the rest of the body (congestive cardiac failure). Symptoms associated with cardiac failure may include an abnormally rapid rate of breathing (tachypnea), wheezing, unusually fast heartbeat (tachycardia), enlarged liver (hepatomegaly), and/or failure to grow at the expected rate (failure to thrive). Large Ventricular Septal Defects can cause life-threatening complications during infancy. Persistent elevation of the pressure within the artery that carries blood away from the heart and to the lungs (pulmonary artery) can cause permanent damage to the lungs.

Some infants with Chromosome 11, Partial Monosomy 11q may exhibit Atrial Septal Defects (ASDs). In the normal heart, a small opening between the two atria (foramen ovale) is present at birth. Shortly after birth, the atrial septum gradually closes and covers this opening. In infants with Atrial Septal Defects, however, the atrial septum may not close properly or may be malformed during fetal development. As a result, the opening between the atria persists long after it should be closed, causing an increase in the workload on the right side of the heart and excessive blood flow to the lungs.

Most children with Atrial Septal Defects exhibit no symptoms. However, in some cases, associated symptoms may include abnormal thinness, mild growth delays, and an increased susceptibility to repeated respiratory infections. In rare cases, severely affected children may experience breathlessness, easy fatigability with exercise, and/or irregular heartbeats (arrhythmias).

Some infants with Partial Monosomy 11q may exhibit an extremely rare congenital heart defect known as "Cor Triloculare Biatriatum," which is characterized by the absence of one ventricle. Infants with this defect have two atria and one large ventricle. Symptoms may include breathing difficulties (dyspnea), excessive accumulation of fluid in the lungs (pulmonary edema) and around the heart, and/or a bluish discoloration (cyanosis) of the skin and mucous membranes. Other symptoms may include poor feeding habits, abnormally rapid breathing (tachypnea), and/or an abnormally rapid heartbeat (tachycardia).

Other congenital heart defects may also occur in assocation with Chromosome 11, Partial Monosomy 11q. These may include abnormalities involving the portion of the aorta that gives rise to three major arterial branches (aortic arch defects) or the embryonic artery that later develops into the aorta and pulmonary arteries (truncus arteriosus defects).

In many cases, such heart defects may cause cardiac failure, susceptibility to frequent respiratory infections, and/or other potentially life-threatening complications during infancy.

Approximately 50 percent of individuals with Chromosome 11, Partial Monosomy 11q may also exhibit abnormally low levels of certain blood cells. Some have unusually decreased levels of circulating platelets (thrombocytopenia), while others have pancytopenia, a condition characterized by low levels of all types of blood cells, including white blood cells (neutropenia), red blood cells (anemia), and platelets (thrombocytopenia).

In some cases, affected infants may also have abnormalities of the genital and urinary (genitourinary) systems. For example, females may exhibit underdevelopment of the folds of skin surrounding the vaginal opening (labia hypoplasia) and/or the small, elongated erecticle organ partially enclosed within the labia (clitoral hypoplasia). They may also have an abnormal passage between the bladder and the vagina (vesicovaginal fistula). In affected males, the urinary opening (meatus) may appear on the underside of the penis (hypospadias); the testes may fail to descend into the scrotum (cryptorchidism); and/or portions of the large intestine may protrude through an abnormal opening in muscles of the groin (inguinal hernia). In addition, affected males may also exhibit abnormal narrowing (stenosis) of the band of muscle fibers (pyloric sphincter) at the junction between the stomach and small intestine (pyloric stenosis), resulting in obstruction of the normal flow of stomach contents into the small intestine. In rare cases, some infants with Partial Monosomy 11q may also exhibit kidney (renal) abnormalities.

Causes

Chromosome 11, Partial Monosomy 11q is a rare chromosomal abnormality in which a portion of the long arm (q) of chromosome 11 is missing (deleted). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as "p" and a long arm identified by the letter "q." Chromosomes are further subdivided into bands that are numbered. Therefore, "chromosome 11q23" refers to band 23 on the long arm of chromosome 11.

In cases of Partial Monosomy 11q, deletion of a portion of chromosome 11q is responsible for the symptoms that characterize this chromosomal disorder. The range and severity of symptoms depend upon the exact length and location of the deleted portion of chromosome 11q. In general, if less of the chromosome is missing, there may be fewer symptoms; if more of the chromosome is deleted, there may be more symptoms.

In individuals with Chromosome 11, Partial Monosomy 11q, the deleted portion of 11q tends to begin within band 11q23 (breakpoint) and extend toward the end or "terminal" portion of chromosome 11q (qter). Researchers have suggested that the chromosomal region consistently missing in individuals with the disorder is band q24.1 (11q24.1).

The exact cause of Chromosome 11, Partial Monosomy 11q is not fully understood. Until recently, the medical literature has indicated that most documented cases appear to be due to a spontaneous (de novo) genetic change (mutation) that occurs for unknown reasons (sporadic). In such cases, the disorder is not inherited from the parents. Other rare cases have appeared to be the result of an error during very early embryonic development due to a chromosomal balanced translocation in one of the parents. A translocation is balanced if pieces of two or more chromosomes break off and trade places, creating an altered but balanced set of chromosomes. If a chromosomal rearrangement is balanced, it is usually harmless to the carrier. However, they may be associated with a higher risk of abnormal chromosomal development in the carrier's offspring. Chromosomal testing can determine whether a parent has a balanced translocation.

More recently, however, researchers have speculated that inheritance of a rare, fragile site or sites on the long arm of chromosome 11 may play a role in causing the disorder in some cases. Such a fragile site (or "folate-sensitive fragile site"), designated "FRA11B," has been linked to band 11q23.3. It has been suggested that inheritance of FRA11B and subsequent breakage at this site during early embryonic development may give rise to the disorder in some individuals. Reports have indicated that the mothers of some affected individuals have been carriers for FRA11B and that FRA11B has been the deletion breakpoint. In addition, based upon evidence that the 11q breakpoint is sometimes beyond (i.e., telomeric to) FRA11B, some researchers suggest that there may be other fragile sites within 11q23.3 in addition to FRA11B. In reported cases with breakpoints telomeric to FRA11B, the deleted chromosome has been paternal in origin, indicating that the tendency for a certain breakpoint may differ based upon the parental origin of the deleted chromosome.
.

Affected Populations

Chromosome 11, Partial Monosomy 11q is a rare chromosomal disorder that is apparent at birth. The disorder was initially described in the medical literature in 1973. Since that time, over 40 cases have been reported in the literature, with 75 to 80 percent involving females and 20 to 25 percent involving males.

Related Disorders

Symptoms of the following disorders can be similar to those of Chromosome 11, Partial Monosomy 11q. Comparisons may be useful for a differential diagnosis:

Chromosome 11 Ring is a rare chromosomal disorder in which chromosome 11 breaks at both ends (i.e., the ends of the long arm [11q] and the short arm [11p]). The chromosomal ends then join together, forming a ring. Affected infants may exhibit abnormally slow growth; delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation); and characteristic physical malformations. These may include abnormalities of the head and facial (craniofacial) area such as an abnormally small, wide head (microbrachycephaly); a short nose with a low, depressed nasal bridge; small, retracted jaws (microretrognathism); and/or low-set ears. Eye (ocular) abnormalities may also be present such as widely-spaced eyes (ocular hypertelorism) and/or crossed eyes (strabismus). Additional features may include a short neck, abnormally low levels of all circulating blood cells (pancytopenia), congenital heart defects, and/or other physical abnormalities. The exact cause of Chromosome 11 Ring is not fully understood.

C Syndrome is an extremely rare inherited disorder characterized by a "triangular-shaped" head with an abnormally prominent forehead (trigonocephaly) due to premature closure of the fibrous joints between certain bones of the skull (craniosynostosis). Additional abnormalities of the head and facial (craniofacial) area may be present such as a short nose with a broad nasal bridge; vertical folds over the inner corners of the eyes (epicanthus); a deep groove in the roof of the mouth (palate); and/or low-set, malformed ears. Additional physical abnormalities may include crossed eyes (strabismus); joints that are dislocated (subluxations) or fixed in a permanently flexed position (joint contractures); and/or additional skeletal abnormalities. In some cases, affected individuals may exhibit genital malformations, congenital heart defects, and/or other physical abnormalities. Mental retardation is also present. C Syndrome is thought to be inherited as an autosomal recessive genetic trait. (For more information on this disorder, choose "C Syndrome" as your search term in the Rare Disease Database.)

Many other chromosomal disorders have features similar to Chromosome 11, Partial Monosomy 11q. The only way to determine which chromosomal disorder an individual has is through chromosomal testing. (For more information on these disorders, choose "Chromosome" as your search term in the Rare Disease Database.)

Standard Therapies

Diagnosis
In some cases, the diagnosis of Chromosome 11, Partial Monosomy 11q may be determined before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and studied. During chorionic villus sampling, a tissue sample is removed from a portion of the placenta. Chromosomal studies performed on this fluid or tissue sample may indicate a partial monosomy of chromosome 11q.

Chromosome 11, Partial Monosomy 11q may also be diagnosed and/or confirmed after birth (postnatally) by a thorough clinical evaluation, characteristic physical findings, and chromosomal studies.

The diagnosis of certain specific abnormalities that may occur in association with Partial Monosomy 11q may be confirmed by specialized imaging studies and/or additional tests. For example, congenital heart defects occurring in association with Chromosome 11, Partial Monosomy 11q (e.g., Ventricular or Atrial Septal Defects, Cor Triloculare Biatriatum, aortic arch defects, or truncus arteriosus defects) may be confirmed by a thorough clinical examination and specialized tests that allow physicians to evaluate the structure and function of the heart. These tests may include X-ray studies, electrocardiogram (EKG), echocardiogram, and cardiac catheterization. X-ray studies may reveal abnormal enlargement of the heart (cardiomegaly) or malformation of other heart structures. An EKG, which records the heart's electrical impulses, may reveal abnormal electrical patterns. During an echocardiogram, ultrasonic waves are directed toward the heart, enabling physicians to study cardiac function and motion. During cardiac catheterization, a small hollow tube (catheter) is inserted into a large vein and threaded through the blood vessels leading to the heart. This procedure allows physicians to determine the rate of blood flow through the heart, measure the pressure within the heart, and/or thoroughly identify anatomical abnormalities.

Treatment
The treatment of Chromosome 11, Partial Monosomy 11q is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, eye specialists, cardiologists, physicians who specialize in diagnosing and treating skeletal abnormalities (orthopedists), those who specialize in abnormalities of speech and language development (speech-language pathologists), and/or other health care professionals may need to systematically and comprehensively plan an affected child's treatment.

In some cases, treatment may include surgical repair of certain malformations. For example, surgery may be performed to correct certain craniofacial, ocular, skeletal, cardiac, genitourinary, renal, and/or other malformations that may be associated with this disorder. The surgical procedures performed will depend upon the severity of the anatomical abnormalities and their associated symptoms.

For example, in affected children with craniosynostosis and trigonocephaly, surgery may be performed to help correct the premature closure of bones in the skull. In addition, certain congenital heart abnormalities occurring in association with Partial Monosomy 11q (e.g., Ventricular or Atrial Septal Defects) may be corrected surgically.

Complications of certain congenital heart defects (e.g., rapid heartbeat [tachycardia], fluid accumulation, etc.) may be treated with a variety of drugs such as those that may help prevent or correct abnormal heart rhythms (antiarrhythmics) and/or medications that help to eliminate excessive fluid from the body (diuretics).

In addition, nutritional considerations may be important in infants with VSDs, ASDs, and/or certain other congenital heart defects. Respiratory infections should be treated vigorously and early. Because of the risk of bacterial infection of the lining of the heart (endocarditis) and the heart valves, individuals with VSDs, ASDs, and/or certain other heart defects may be given antibiotic drugs before any surgical procedure, including dental procedures such as tooth extractions.

In affected children with eye abnormalities (e.g., iris colobomas, strabismus, etc.), surgery and/or other measures may be used to help treat and/or correct such malformations. Corrective glasses, contact lenses, surgery, and/or other measures may also be used to help improve visual problems associated with such ocular abnormalities.

In some cases, abnormalities involving the joints, tendons, muscles, and bones (orthopedic), such as flexion contractures, clubfeet, and/or other abnormalities of the hands and/or feet may be treated with orthopedic techniques, potentially in combination with surgery. Again, the procedures used will depend upon the severity and location of the abnormalities and their associated symptoms. Physical therapy may also be prescribed to help improve coordination of certain movements (mobility).

In addition, physicians may regularly monitor affected individuals who tend to exhibit thrombocytopenia or pancytopenia (e.g., with regular blood counts) to ensure proper preventive measures and early, prompt treatment. In some severe cases of thrombocytopenia or pancytopenia (i.e., low levels of all types of blood cells, including white blood cells [neutropenia], red blood cells [anemia], and/or platelets [thrombocytopenia]), transfusions of specific blood components (e.g., neutrophils, platelets) may be given to help reduce associated symptoms.

Other treatment of Chromosome 11, Partial Monosomy 11q is symptomatic and supportive. A team approach may be helpful in ensuring that affected individuals reach their fullest potential. Such a team approach may include special remedial education, speech therapy, and other medical, social, or vocational services. Genetic counseling will be of benefit for families of children with Chromosome 11, Partial Monosomy 11q.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com.

References

Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number 147791; 6/7/00. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?147791.

TEXTBOOKS
Jones KL. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W.B. Saunders Company; 1997:58.

Buyse ML. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications, Inc.; 1990:360-61.

Gorlin RJ, et al., eds. Syndromes of the Head and Neck. 3rd ed. New York, NY: Oxford University Press; 1990:85-86.

JOURNAL ARTICLES
Jones C, et al. Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. Hum Molec Genet. 2000;9:1201-08.

Aalfs CM, et al. Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome [letter]. Am J Med Genet. 1999;86:398-400.

Michaelis RC, et al. Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. Am J Med Genet. 1998;76:222-28.

Lewanda AF, et al. Two craniosynostotic patients with 11q deletions, and review of 48 cases. Am J Med Genet. 1995;59:193-98.

Wax JR, et al. Prenatal ultrasonographic findings associated with Jacobsen syndrome. J Ultrasound Med. 1995;14:256-58.

Jones C, et al. Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Hum Mol Genet. 1994;3:2123-30.

Uto H, et al. A case of 11q- syndrome associated with abnormalities of the retinal vessels. Ophthalmologica. 1994;208:233-36.

Caiola A, et al. Prenatal diagnosis of deletion 11q23-->qter. Report of two unrelated cases. Ann Genet. 1993;36:228-30.

Hustinx R, et al. Monosomy 11q: report of two familial cases and review of the literature. Am J Med Genet. 1993;47:312-17.

Schwarz C, et al. A terminal deletion of 11q. J Med Genet. 1992;29:511-12.

Obregon MG, et al. Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients. Ann Genet. 1992;35:208-12.

Fryns JP, et al. Distal 11q deletion: a specific clinical entity. Helv Paediatr Acta. 1987;42:191-94.

Fryns JP, et al. Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1. Clin Genet. 1986;30:255-60.

Cousineau AJ, et al. Brief clinical report: ring-11 chromosome: phenotype-karyotype correlation with deletions of 11q. Am J Med Genet. 1983;14:29-35.

Mcpherson E, et al. 11q- syndrome: review and report of two cases. Birth Defects. 1982;18:296-300.

Niikawa N, et al. Ring chromosome 11 [46,xx,r(11)(p15q25)] associated with clinical features of the 11q- syndrome. Ann Genet. 1981;24:172-75.

Schinzel A, et al. Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings. J Med Genet. 1977;14:438-44.

Resources

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: csmith@ccakids.com
Internet: http://www.ccakids.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

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
Internet: http://www.chromodisorder.org

American Speech-Language-Hearing Association
10801 Rockville Pike
Rockville, MD 20852
United States
Tel: (800)321-2742
Fax: (301)571-0457
Tel: (800)321-2742
TDD: (301)897-5700
Email: actioncenter@asha.org
Internet: http://www.asha.org

Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton, OH 43558
Tel: (419)825-5575
Fax: (419)825-2880
Email: chaser@compuserve.com
Internet: http://www.csun.edu/~hcmth011/chaser/chaser-news.html

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas, TX 75204
Tel: (800)535-3643

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
1 Communication Ave
Bethesda, MD 20892-3456
Tel: (301)402-0900
Fax: (301)907-8830
Tel: (800)241-1044
TDD: (800)241-1105
Email: nidcdinfo@nidcd.nih.gov
Internet: http://www.nidcd.nih.gov

UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Caterham
Surrey, Intl CR3 5GN
United Kingdom
Tel: 44 0 1883 330766
Fax: 44 0 1883 330766
Email: info@rarechromo.org
Internet: http://www.rarechromo.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

11Q Research and Resource Group
83 Lantern Hill Road
Mystic, CT 06355
USA
Tel: (860)599-4015
Fax: (860)441-6159
Email: david_m_george@groton.pfizer.com
Internet: http://www.11qusa.org

European Chromosome 11q Network
Tom and Gabi Birle
Ahornstr. 13
Hebertshausen, Intl 85421
Germany
Tel: 31317423345
Fax: 31317426980
Email: info@11q.org
Internet: http://www.11q.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). CIGNA members can access the complete report by logging into myCIGNA.com. For non-CIGNA members, 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.

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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:  4/10/2009
Copyright  1989, 1996, 2001, 2009 National Organization for Rare Disorders, Inc.



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