Rare Pediatrics News

Disease Profile

15q13.3 microdeletion 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

US Estimated

Europe Estimated

Age of onset

Childhood

ageofonset-childhood.svg

ICD-10

Q93.5

Inheritance

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

rnn-autosomaldominant.svg

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.

no.svg

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.

no.svg

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

no.svg

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.

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.

no.svg

Not applicable

notapplicable.svg

Other names (AKA)

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

Categories

Chromosome Disorders; Congenital and Genetic Diseases; Nervous System Diseases

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]

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

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

    Organizations Providing General Support

      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

      • MedlinePlus Genetics 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.

          References

          1. Victor A. McKusick. CHROMOSOME 15q13.3 DELETION SYNDROME. In: Ada Hamosh. OMIM. 5/26/2015; https://www.ncbi.nlm.nih.gov/omim/612001.
          2. 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. https://www.ncbi.nlm.nih.gov/pubmed/26997942.
          3. 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.
          4. Bregje WM van Bon, Heather C Mefford, Bert BA de Vries. 15q13.3 Microdeletion. GeneReviews. July 23, 2015; https://www.ncbi.nlm.nih.gov/books/NBK50780/.