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Disease Profile

Chromosome 16p13.3 duplication

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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)

16p13.3 duplication; Interstitial 16p13.3 duplication; 16p13.3 microduplication syndrome;

Categories

Congenital and Genetic Diseases

Summary

Chromosome 16p13.3 duplication is a chromosome abnormality that can affect many parts of the body. People with this condition have an extra piece of genetic material (duplication) on chromosome 16 at a location designated p13.3. The symptoms and severity vary from person to person because not everyone with a 16p13.3 duplication has the same amount of extra DNA. Possible symptoms include developmental delay, speech delay, joint abnormalities, characteristic facial features, attention deficit, autism spectrum disorders, and underlying health problems such as heart conditions. Most cases are not inherited and occur randomly. Less commonly, the duplication is inherited from a parent. Regardless, a person with the duplication can pass it on to his/her child. Treatment is based on the signs and symptoms present in each person.[1][2]

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
5%-29% of people have these symptoms
Autistic behavior
0000729
Hip dislocation
Dislocated hips
Dislocation of hip

[ more ]

0002827
Pectus excavatum
Funnel chest
0000767
Percent of people who have these symptoms is not available through HPO
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
Autosomal dominant inheritance
0000006
Bulbous nose
0000414
Camptodactyly
Permanent flexion of the finger or toe
0012385
Global developmental delay
0001263
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Malar flattening
Zygomatic flattening
0000272
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Pes cavus
High-arched foot
0001761
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Ptosis
Drooping upper eyelid
0000508
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Short phalanx of finger
Short finger bones
0009803
Short toe
Short toes
Stubby toes

[ more ]

0001831
Sporadic
No previous family history
0003745
Tapered finger
Tapered fingertips
Tapering fingers

[ more ]

0001182
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629

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

    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

    • Genetics Home Reference (GHR) contains information on Chromosome 16p13.3 duplication. 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 Chromosome 16p13.3 duplication.

      In-Depth Information

      • 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 Chromosome 16p13.3 duplication. Click on the link to view a sample search on this topic.

        References

        1. CHROMOSOME 16p13.3 DUPLICATION SYNDROME. OMIM. January 2012; https://www.omim.org/entry/613458.
        2. 16p13.3 duplications and microduplications. Unique. 2013; https://www.rarechromo.org/information/Chromosome%2016/16p13.3%20duplications%20and%20microduplications%20FTNW.pdf.