Disease Profile

7q11.23 duplication syndrome

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of Onset

Neonatal

ICD-10

Q92.3

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Williams-Beuren region duplication syndrome; WBS duplication syndrome; Chromosome 7q11.23 duplication syndrome;

Categories

Congenital and Genetic Diseases

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]

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.

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

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.

      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; https://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; https://www.ncbi.nlm.nih.gov/books/NBK327268/.