7q11.23 duplication syndrome

Información en español Title

Other Names:

Williams-Beuren region duplication syndrome; WBS duplication syndrome; Chromosome 7q11.23 duplication syndrome; Williams-Beuren region duplication syndrome; WBS duplication syndrome; Chromosome 7q11.23 duplication syndrome; Somerville-Van Der AA syndrome; Dup(7)(q11.23); Trisomy 7q11.23; 7q11.23 microduplication syndrome See More

Categories:

Congenital and Genetic Diseases

Summary Summary

7q11.23 duplication syndrome is a chromosome abnormality characterized by a variety of neurological and behavioral differences.^[1] It is caused by a small amount of additional (duplicated) genetic material from chromosome 7. Symptoms may include: motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation). 7q11.23 duplication syndrome is caused by a duplication of genetic material on the long (q) arm of chromosome 7.^[1]^[2]^[3] Some cases of 7q11.23 duplication syndrome are inherited in an autosomal dominant manner; however, the majority of affected individuals have a new (de novo) duplication. While there is no cure for 7q11.23 duplication, treatment options will depend on the type and severity of symptoms present and may involve several specialists.^[2]^[3]

Last updated: 10/6/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
30%-79% of people have these symptoms
Abnormality of the columella		0009929
Anxiety	Excessive, persistent worry and fear	0000739
Aortic aneurysm	Bulge in wall of large artery that carries blood away from heart	0004942
Brachycephaly	Short and broad skull	0000248
Broad forehead	Increased width of the forehead Wide forehead [ more ]	0000337
Broad nasal tip	Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ]	0000455
Cerebellar hypoplasia	Small cerebellum Underdeveloped cerebellum [ more ]	0001321
Chronic constipation	Infrequent bowel movements	0012450
Congenital diaphragmatic hernia		0000776
Craniosynostosis		0001363
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Dental malocclusion	Bad bite Malalignment of upper and lower dental arches Misalignment of upper and lower dental arches [ more ]	0000689
Diastema	Gap between teeth	0000699
Dolichocephaly	Long, narrow head Tall and narrow skull [ more ]	0000268
Dysmetria	Lack of coordination of movement	0001310
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hyperactivity	More active than typical	0000752
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Intellectual disability, moderate	IQ between 34 and 49	0002342
Long eyelashes	Increased length of eyelashes Unusually long eyelashes [ more ]	0000527
Low-set, posteriorly rotated ears		0000368
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Motor delay		0001270
Retrognathia	Receding chin Receding lower jaw Weak chin Weak jaw [ more ]	0000278
Short philtrum		0000322
Simplified gyral pattern		0009879
Single transverse palmar crease		0000954
Thin upper lip vermilion	Thin upper lip	0000219
Unsteady gait	Unsteady walk	0002317
Ventriculomegaly		0002119
5%-29% of people have these symptoms
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Asymmetric crying face		0011333
Autism with high cognitive abilities		0000753
Chronic otitis media	Chronic infections of the middle ear	0000389
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Cutis marmorata		0000965
Drooling	Dribbling	0002307
Esotropia	Inward turning cross eyed	0000565
High forehead		0000348
Horizontal eyebrow	Flat eyebrow Straight eyebrow [ more ]	0011228
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Impaired social interactions	Impaired social interaction Poor social interactions [ more ]	0000735
Impaired visuospatial constructive cognition		0010794
Inguinal hernia		0000023
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Joint hypermobility	Double-Jointed Flexible joints Increased mobility of joints [ more ]	0001382
Large earlobe	Fleshy earlobe Fleshy earlobes Prominent ear lobes prominent ear lobules [ more ]	0009748
Mutism	Inability to speak Muteness [ more ]	0002300
Obesity	Having too much body fat	0001513
Overfolded helix	Overfolded ears	0000396
Patent ductus arteriosus		0001643
Polyphagia	Voracious appetite	0002591
Seizure		0001250
Short lingual frenulum		0000200
Short stature	Decreased body height Small stature [ more ]	0004322
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Sparse anterior scalp hair	Sparse scalp hair at front of head Thin scalp hair at front of head [ more ]	0004768
Stereotypy	Repetitive movements Repetitive or self-injurious behavior [ more ]	0000733
1%-4% of people have these symptoms
Abnormality of the optic disc		0012795
Aortic valve stenosis	Narrowing of aortic valve	0001650
Aplasia/Hypoplasia of the fallopian tube	Absent/small fallopian tube Absent/underdeveloped fallopian tube [ more ]	0008655
Aplasia/hypoplasia of the uterus	Absent/small uterus Absent/underdeveloped uterus [ more ]	0008684
Astigmatism	Abnormal curving of the cornea or lens of the eye	0000483
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Cafe-au-lait spot		0000957
Collectionism	Compulsive hoarding	0030212
Cubitus valgus	Outward turned elbows	0002967
Enuresis		0000805
Exotropia	Outward facing eye ball	0000577
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hemivertebrae	Missing part of vertebrae	0002937
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hydronephrosis		0000126
Hypospadias		0000047
Impaired smooth pursuit		0007772
Long fingers		0100807
Narrow palpebral fissure	Small opening between the eyelids	0045025
Pectus excavatum	Funnel chest	0000767
Pes planus	Flat feet Flat foot [ more ]	0001763
Round face	Circular face Round facial appearance Round facial shape [ more ]	0000311
Sacral dimple	Spinal dimple	0000960
Self-injurious behavior	Self-injurious behaviour	0100716
Short neck	Decreased length of neck	0000470
Tracheomalacia	Floppy windpipe	0002779
Unilateral renal agenesis	Absent kidney on one side Missing one kidney Single kidney [ more ]	0000122
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Percent of people who have these symptoms is not available through HPO
Attention deficit hyperactivity disorder	Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ]	0007018
Autistic behavior		0000729
Autosomal dominant inheritance		0000006
Cerebellar vermis hypoplasia		0001320
Facial asymmetry	Asymmetry of face Crooked face Unsymmetrical face [ more ]	0000324
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Global developmental delay		0001263
Growth hormone deficiency		0000824
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Muscular hypotonia	Low or weak muscle tone	0001252

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/1/2020

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/
Duplication Cares
Telephone: 440-853-7023
Fax: 425-642-2514
E-mail: info@DuplicationCares.org
Website: https://www.duplicationcares.org
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Duplication Cares , a non-profit organization, provides information on 7q11.23 duplication syndrome
Genetics Home Reference (GHR) contains information on 7q11.23 duplication syndrome. This website is maintained by the National Library of Medicine.
Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 7q11.23 duplication syndrome.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss 7q11.23 duplication syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

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