5q14.3 microdeletion syndrome

Title

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Other Names:

Chromosome 5q14.3 deletion syndrome; Monosomy 5q14.3; Del(5)(q14.3); Chromosome 5q14.3 deletion syndrome; Monosomy 5q14.3; Del(5)(q14.3); Mental retardation, autosomal dominant 20; 5q14.3 deletion syndrome; Autosomal dominant intellectual disability 20 See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

This disease is grouped under:

Chromosome 5q deletion

Summary Summary

5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy. Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large open mouth, upslanted palpebral fissures (outside corners of the eyes that point downward), and prominent eyebrows. The condition is caused by mutations affecting the MEF2C gene and deletions in the q14.3 region of chromosome 5.^[1]^[2]^[3]

Last updated: 7/17/2014

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
Autistic behavior		0000729
Broad forehead	Increased width of the forehead Wide forehead [ more ]	0000337
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
High forehead		0000348
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Muscular hypotonia	Low or weak muscle tone	0001252
Seizure		0001250
30%-79% of people have these symptoms
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short philtrum		0000322
Stereotypy	Repetitive movements Repetitive or self-injurious behavior [ more ]	0000733
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Ventriculomegaly		0002119
5%-29% of people have these symptoms
Abnormality of the periventricular white matter		0002518
Agenesis of cerebellar vermis		0002335
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Epileptic encephalopathy		0200134
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Frontal cortical atrophy		0006913
Open mouth	Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ]	0000194
Optic nerve hypoplasia		0000609
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Thick eyebrow	Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ]	0000574
Toe syndactyly	Fused toes Webbed toes [ more ]	0001770
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Downturned corners of mouth	Downturned corners of the mouth Downturned mouth [ more ]	0002714
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Inability to walk		0002540
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Motor delay		0001270
Poor eye contact		0000817
Short chin	Decreased height of chin Short lower third of face [ more ]	0000331
Sporadic	No previous family history	0003745

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Last updated: 1/1/2021

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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/

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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 5q14.3 microdeletion syndrome . This website is maintained by the National Library of Medicine.
Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 5q14.3 microdeletion syndrome .
5q14.3 deletions
MEF2C haploinsufficiency syndrome

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.
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 5q14.3 microdeletion syndrome . Click on the link to view a sample search on this topic.

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References References

5q14.3 microdeletion syndrome. Orphanet. May 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228384. Accessed 7/17/2014.
MEF2C. Genetics Home Reference (GHR). July 14, 2014; http://ghr.nlm.nih.gov/gene/MEF2C. Accessed 7/17/2014.
Mental retardation, autosomal dominant 20. Online Mendelian Inheritance in Man (OMIM). April 1, 2014; http://omim.org/entry/613443. Accessed 7/17/2014.

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