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Disease Profile

16q24.3 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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)

Del(16)(q24.3); Monosomy 16q24.3; Chromosome 16q24.3 microdeletion syndrome

Categories

Congenital and Genetic Diseases

Summary

16q24.3 microdeletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated q24.3. Signs and symptoms may include developmental delay, characteristic facial features, seizures and autism spectrum disorder.[1][2][3] Chromosome testing of both parents can provide more information on whether or not the microdeletion was inherited. In most cases, parents do not have any chromosomal anomaly.[1] However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a microdeletion. Treatment is based on the signs and symptoms present in each person.

To learn more about chromosomal anomalies in general, please visit our GARD webpage on Chromosome Disorders.

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
Autism
0000717
High forehead
0000348
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
30%-79% of people have these symptoms
Colpocephaly
0030048
Frontal bossing
0002007
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Intellectual disability, moderate
IQ between 34 and 49
0002342
Long philtrum
0000343
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Optic nerve hypoplasia
0000609
Periventricular heterotopia
0007165
Pointed chin
Pointy chin
Small pointed chin
Witch's chin

[ more ]

0000307
Seizure
0001250
Smooth philtrum
0000319
Ventriculomegaly
0002119
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154
5%-29% of people have these symptoms
Abnormal hair pattern
Abnormal distribution of hair
0010720
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Biparietal narrowing
0004422
Chronic otitis media
Chronic infections of the middle ear
0000389
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
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
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows

[ more ]

0002553
Hip dysplasia
0001385
Increased mean corpuscular volume
0005518
Kyphosis
Hunched back
Round back

[ more ]

0002808
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
Mitral regurgitation
0001653
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Preauricular skin tag
0000384
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Scoliosis
0002650
Single median maxillary incisor
Only one upper front tooth
0006315
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Thick vermilion border
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips

[ more ]

0012471
Thrombocytopenia
Low platelet count
0001873
Triangular face
Face with broad temples and narrow chin
Triangular facial shape

[ more ]

0000325
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
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    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 16q24.3 microdeletion syndrome. This website is maintained by the National Library of Medicine.

        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.
        • 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 16q24.3 microdeletion syndrome. Click on the link to view a sample search on this topic.

          References

          1. 16q24.3 microdeletion syndrome. Orphanet. May 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250.
          2. Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet. April 2010; 18(4):429-435.
          3. Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J. Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. Am J Med Genet A. April 2013; 161A(4):835-840.