5q31.3 microdeletion syndrome
Senast uppdaterad 8 Sept 2020
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
- Lägg till i föredragna källor på Google
5q31.3 microdeletion syndrome is a condition characterised by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems. Breathing problems and difficulty swallowing (dysphagia) can be life-threatening.
Beskrivning
5q31.3 microdeletion syndrome is a condition characterised by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems. Breathing problems and difficulty swallowing (dysphagia) can be life-threatening.
5q31.3 microdeletion syndrome is also characterised by distinctive facial features. Such features include a narrow forehead, widely spaced eyes (hypertelorism), an open mouth with an upper lip that points outward (called a tented lip), a high arch in the roof of the mouth (high-arched palate), a small lower jaw (micrognathia), and a lack of facial expression. Some of these features, such as an open mouth with a tented lip and an expressionless face, are thought to be due to hypotonia.
Recurrent seizures (epilepsy) and seizure-like episodes (which can include muscle jerking, twitching, and stiffening), are common in 5q31.3 microdeletion syndrome. Many individuals with 5q31.3 microdeletion syndrome have brain abnormalities, several of which are caused by reduced production of myelin or delayed maturation of myelin. Myelin is the protective covering that insulates nerves and ensures the rapid transmission of nerve impulses.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Related patient information and medicines
Patient information leaflet
Cri du chat-syndrom
Cri du chat-syndrom is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Cri-du-chat is a rare condition caused by a defect in the genes. The missing piece... Therefore cri du chat syndrome is said to be caused by.
Patient information leaflet
Nefrotiskt syndrom
Nefrotiskt syndrom is a condition where the 'filters' in the kidney become 'leaky' och large amounts of protein leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. The most common.
Patient information leaflet
Kan jag ta Karbocistein och Omega-3 tillsammans?
Omega-3 fatty acids are nutrients used by the body for various functions, including heart and brain health. Our Medicines Interaction Checker helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Disclaimer This information is for general educational purposes only and should not be.
Patient information leaflet
Kan jag ta Kollagen och Omega-3 tillsammans?
There are no known harmful interactions between collagen and omega-3 supplements. Our Interaktionskontroll för läkemedel helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Disclaimer This information is for general educational purposes only and should not be relied upon as a substitute for.
Patient information leaflet
Screening för Downs syndrom
There are two different types of tests that can be done to look for Downs syndrom during graviditeten - a screening test and a diagnostic test. What is Down's syndrome. Down's syndrome is a genetic chromosome problem that some people are born with. A person with Down's syndrome can usually be recognised by their typical features. It can also cause.
Patient information leaflet
Ehlers-Danlos syndrom
Den Ehlers-Danlos syndromes (EDS) are a group of conditions that affect the stretchiness and strength of supporting tissues in the body, including skin, joints, blood vessels and internal organs. What are the Ehlers-Danlos syndromes. The Ehlers Danlos syndromes (EDS) are a group of conditions which are usually (although not always) inherited from.
Vidare läsning och referenser
- 5q31.3 microdeletion syndrome; MedlinePlus, National Library of Medicine.
- Bonaglia MC, Zanotta N, Giorda R, D'Angelo G, Zucca C. Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. Mol Cytogenet. 2015 Nov 14;8:89. doi: 10.1186/s13039-015-0193-9. eCollection 2015.
- Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, Stark Z. 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. Am J Med Genet A. 2013 Oct;161A(10):2604-8. doi: 10.1002/ajmg.a.36108. Epub 2013 Aug 15.
- Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh S. Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A. 2012 Aug;158A(8):1891-6. doi: 10.1002/ajmg.a.35439. Epub 2012 Jun 18.
- Shimojima K, Isidor B, Le Caignec C, Kondo A, Sakata S, Ohno K, Yamamoto T. A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet A. 2011 Apr;155A(4):732-6. doi: 10.1002/ajmg.a.33891. Epub 2011 Mar 15.
- White MK, Johnson EM, Khalili K. Multiple roles for Puralpha in cellular and viral regulation. Cell Cycle. 2009 Feb 1;8(3):1-7. doi: 10.4161/cc.8.3.7585. Epub 2009 Feb 10.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
8 Sept 2020 | Senaste versionen
1 Aug 2017 | Ursprungligen publicerad
Delta i konversationen
Dela dina tankar eller erfarenheter med andra i vår patientgemenskaper.
Fråga, dela, anslut.
Bläddra i diskussioner, ställ frågor och dela erfarenheter inom hundratals hälsorelaterade ämnen.
Anmäl dig till Patientens nyhetsbrev
Din veckovisa dos av tydliga, pålitliga hälsoråd - skrivna för att hjälpa dig känna dig informerad, självsäker och i kontroll.
Genom att prenumerera accepterar du våra Sekretesspolicy. Du kan avsluta prenumerationen när som helst. Vi säljer aldrig dina uppgifter.