15q13.3 microdeletion syndrome

Title

Other Names:

Chromosome 15q13.3 deletion syndrome; Microdeletion 15q13.3 syndrome; Chromosome 15q13.3 microdeletion syndrome; Chromosome 15q13.3 deletion syndrome; Microdeletion 15q13.3 syndrome; Chromosome 15q13.3 microdeletion syndrome; 15q13.3 microdeletion See More

Categories:

Chromosome Disorders; Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

15q13.3 microdeletion syndrome is a genetic disorder caused by a deletion of several genes on chromosome 15. When a syndrome is caused by the deletion of several genes, it is also known as a microdeletion syndrome or a contiguous gene deletion syndrome. Individuals with 15q13.3 microdeletion syndrome may have very different signs and symptoms from other affected individuals (even within the same family), or no symptoms at all. Features of the condition may include mild to moderate intellectual disabilities, learning delays, or normal intelligence; autism spectrum disorders; epilepsy (recurring seizures); and mental illness (such as schizophrenia or bipolar disorder). Various dysmorphic (abnormally formed) features have been reported, but there are no consistent physical features among individuals who have the condition.^[1]^[2] 15q13.3 microdeletion syndrome is caused by a deletion on the long arm of chromosome 15 that spans at least 7 genes and usually includes the CHRNA7 gene.^[3]It can be inherited in an autosomal dominant manner with reduced penetrance, or can occur as a new (de novo) deletion.^[1] Treatment typically focuses on individual signs and symptoms when possible.^[4]

Last updated: 4/18/2016

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
30%-79% of people have these symptoms
Abnormal facial shape	Unusual facial appearance	0001999
Global developmental delay		0001263
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology		0030680
Attention deficit hyperactivity disorder	Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ]	0007018
Autism		0000717
Bipolar affective disorder	Bipolar disorder	0007302
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Frontal bossing		0002007
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Macrotia	Large ears	0000400
Melanocytic nevus	Beauty mark	0000995
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Muscular hypotonia	Low or weak muscle tone	0001252
Prominent nasal tip	Large nasal tip Large tip of nose Prominent tip of nose Pronounced nasal tip Pronounced tip of nose [ more ]	0005274
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
Schizophrenia		0100753
Seizures	Seizure	0001250
Short stature	Decreased body height Small stature [ more ]	0004322
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
1%-4% of people have these symptoms
Abnormality of the palpebral fissures	Abnormality of the opening between the eyelids	0008050
Abnormality of the pinna	Abnormally shaped ears Auricular malformation Deformed ears Malformed ears [ more ]	0000377
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Brachydactyly	Short fingers or toes	0001156
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Incomplete penetrance		0003829
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
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Specific learning disability		0001328
Synophrys	Monobrow Unibrow [ more ]	0000664
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006

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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

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.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis comprises the other causes of intellectual deficit, schizophrenia, autism and epilepsy. Genetic testing rules out the other 15q proximal anomalies associated with a similar clinical picture. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

15q13.3 research project
Bregje W.M. van Bon, MD, PhD
Radboud University Medical Center
Department of Human Genetics, 836
Postbox 9101
6500 HB Nijmegen the Netherlands

E-mail: bregje.vanbon@radboudumc.nl
Website: http://www.15q13.com/en/index.php
The 15q13.3 research project is based out of the Department of Human Genetics at Radboud University Medical Centre. Their goal is to collect clinical data on individuals with 15q13.3 deletions to gain more understanding of the variability in the clinical spectrum associated with the deletion.

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/
Epilepsy Foundation
8301 Professional Place East
Suite 230
Landover, MD 20785
Toll-free: 800-332-1000 (24/7 Helpline)
Telephone: +1-301-459-3700
Fax: +1-301-577-2684
E-mail: contactus@efa.org
Website: https://www.epilepsy.com/
en Español 1-866-748-8008
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

Genetics Home Reference (GHR) contains information on 15q13.3 microdeletion syndrome. This website is maintained by the National Library of Medicine.
Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 15q13.3 microdeletion 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 15q13.3 microdeletion syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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

Victor A. McKusick. CHROMOSOME 15q13.3 DELETION SYNDROME. In: Ada Hamosh. OMIM. 5/26/2015; http://www.ncbi.nlm.nih.gov/omim/612001.
Hassfurther A., Komini E., Fischer J., Leipoldt M.. Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome. Mol Syndromol. Feb 2016; 6(5):222-228. http://www.ncbi.nlm.nih.gov/pubmed/26997942.
15q13.3 microdeletion syndrome. Unique: Rare Chromosome Disorder Support Group. 2013; https://www.rarechromo.org/media/information/Chromosome%2015/15q13.3%20microdeletion%20syndrome%20FTNW.pdf.
Bregje WM van Bon, Heather C Mefford, Bert BA de Vries. 15q13.3 Microdeletion. GeneReviews. July 23, 2015; http://www.ncbi.nlm.nih.gov/books/NBK50780/.