5q14.3 microdeletion syndrome
Alternate names
Chromosome 5q14.3 deletion syndrome; Monosomy 5q14.3; Del(5)(q14.3); 5q14.3 deletion syndrome; Autosomal dominant intellectual disability 20
Definition
5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy.
Cause
The condition is caused by mutations affecting the MEF2C gene and deletions in the q14.3 region of chromosome 5.
Signs and symptoms
- It 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.
Clinical presentation
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Autistic behavior
- Broad forehead(Increased width of the forehead)
- Delayed speech and language development(Deficiency of speech development)
- High forehead
- Intellectual disability, severe(Early and severe mental retardation)
- Muscular hypotonia(Low or weak muscle tone)
- Seizure
30%-79% of people have these symptoms
- Hypoplasia of the corpus callosum(Underdevelopment of part of brain called corpus callosum)
- Short nose(Decreased length of nose)
- Short philtrum
- Stereotypy(Repetitive movements)
- Upslanted palpebral fissure(Upward slanting of the opening between the eyelids)
- Ventriculomegaly
5%-29% of people have these symptoms
- Abnormality of the periventricular white matter
- Agenesis of cerebellar vermis
- Anteverted nares(Nasal tip, upturned)
- Deeply set eye(Deep set eye)
- Epileptic encephalopathy
- Feeding difficulties(Feeding problems)
- Frontal cortical atrophy
- Open mouth(Gaped jawed appearance)
- Optic nerve hypoplasia
- Strabismus(Cross-eyed)
- Thick eyebrow(Bushy eyebrows)
- Toe syndactyly(Fused toes)
Diagnosis
Treatment
NIH genetic and rare disease info
5q14.3 microdeletion syndrome is a rare disease.
Resources
Frequently asked questions
Additional resources | |
|---|---|
5q14.3 microdeletion syndrome | |
| About WikiMD |  |
 | This 5q14.3 microdeletion syndrome article is a stub. You can help WikiMD by expanding it. |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju
