16q24.3 microdeletion syndrome

Title

Other Names:

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

Categories:

Congenital and Genetic Diseases

Summary 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.

Last updated: 2/8/2016

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
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
Seizures	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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

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Diagnosis 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.

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.

Clinical Research Resources

Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

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/
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 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.

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

16q24.3 microdeletion syndrome. Orphanet. May 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250.
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.
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.

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