Rare Nephrology News
Disease Profile
16q24.3 microdeletion syndrome
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
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
Del(16)(q24.3); Monosomy 16q24.3; Chromosome 16q24.3 microdeletion syndrome
Categories
Congenital and Genetic Diseases
Summary
16q24.3
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 | ||
| 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 |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
|
IQ between 34 and 49
|
0002342 | |
| Long philtrum | 0000343 | |
|
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 |
| 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 |
Stretched and thinned heart muscle
|
0001644 |
|
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 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Preauricular skin tag | 0000384 | |
| Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
| 0002650 | ||
| Single median maxillary incisor |
Only one upper front tooth
|
0006315 |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
|
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
-
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: [email protected]
Website: https://www.rarechromo.org/
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
- 16q24.3 microdeletion syndrome. Orphanet. May 2011; https://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.