Disease Profile

5q14.3 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)

Chromosome 5q14.3 deletion syndrome; Monosomy 5q14.3; Del(5)(q14.3);

Categories

Congenital and Genetic Diseases; Nervous System Diseases

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]

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
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

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 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.

        References

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