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  3. 7q11.23 duplication syndrome
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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


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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


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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.

Showing of 99 |
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
Seizures
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
Showing of 99 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 12/1/2019
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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


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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


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. 7q11.23 duplication syndrome. Genetics Home Reference. April 2016; https://ghr.nlm.nih.gov/condition/7q1123-duplication-syndrome.
  2. 7q11.23 duplication syndrome. Unique. 2015; http://www.rarechromo.org/information/Chromosome%20%207/7q11.23%20duplication%20syndrome%20FTNW.pdf.
  3. Carolyn B Mervis, PhD, Colleen A Morris, MD, Bonita P Klein-Tasman, Shelley L Velleman, Lucy R Osborne. 7q11.23 duplication syndrome. GeneReveiws. November 25. 2015; http://www.ncbi.nlm.nih.gov/books/NBK327268/.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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