Notes in 1. Syndrome Presentations

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Status	Last Update	Fields
Published	02/10/2024	Investigations of Malformation Syndromes {{c1::First Step: Microarray (Number of Chromosomes)}} {{c1::Fragile X Gene (If it’s a learning disability sy…
Published	02/10/2024	Cause of {{c2::Down’s}} Syndrome is {{c1::Trisomy of chromosome 21}}
Published	02/10/2024	Presentation of {{c2::Down’s Syndrome}} {{c1::Hypotonia (May be the main presentation)}} {{c1::Hyperflexibility}} {{c1::Brachycephaly (small head with…
Published	02/10/2024	Complications of {{c2::Down’s Syndrome}} {{c1::Learning disability}} {{c1::Congenital heart disease (ASD, VSD, Patent ductus arteriosus, Tetralogy of …
Published	02/10/2024	Ultrasound that shows {{c1::nuchal translucency (nuchal thickness over 6mm)}} indicates {{c2::Down's Syndrome}}
Published	02/10/2024	Cause of {{c2::Klinefelter}} Syndrome is an {{c1::additional X chromosome in a male making them 47XXY}}
Published	02/10/2024	Presentation of {{c2::Klinefelter Syndrome}} {{c1::Taller height}} {{c1::Wider hips}} {{c1::Gynaecomastia}} {{c1::Weaker muscles}} {{c1::Small testicl…
Published	02/10/2024	Cause of {{c2::Turner}} Syndrome is a {{c1::single X chromosome in a woman making them 45X}}
Published	02/10/2024	Three Classic Features of {{c2::Turner Syndrome}} {{c1::Short stature}} {{c1::Webbed neck}} {{c1::Widely spaced nipples}}
Published	02/10/2024	Complications of {{c2::Turner}} Syndrome {{c1::Aortic coractation}} {{c1::Primary amenorrhoea}} {{c1::Hypothyroidism}} {{c1::UTIs}}
Published	02/10/2024	Cause of {{c2::Noonan}} Syndrome is {{c1::inheritance in an autosomal dominant manner}}
Published	02/10/2024	Features of {{c2::Noonan Syndrome}}{{c1::Webbed neck}}{{c1::Widely spaced nipples}}{{c1::Cryptorchidism}} {{c1::Short stature}} {{c1::Broad forehead}}…
Published	02/10/2024	Cause of {{c2::Marfan}} Syndrome {{c1::is inheritance in an autosomal dominant manner}}
Published	02/10/2024	Features of {{c2::Marfan Syndrome}} {{c1::Tall stature}} {{c1::Long neck, limbs, fingers (arachnodactyly)}} {{c1::High arch palate}} {{c1::Hypermobili…
Published	02/10/2024	Complications of {{c2::Marfan}} Syndrome {{c1::Mitral or Aortic regurgitation}} {{c1::Aortic aneurysm}}
Published	02/10/2024	Cause of {{c2::Fragile X}} Syndrome is {{c1::an X-linked mutation in the FMR1 (Fragile X mental retardation 1) gene}}
Published	02/10/2024	Features of {{c2::Fragile X}} Syndrome {{c1::Intellectual disability}}{{c1::Macrocephaly}} {{c1::Long, narrow face}} {{c1::Large ears}} {{c1::Large te…
Published	02/10/2024	Cause of {{c2::Prader-Willi}} Syndrome is {{c1::loss of functional genes on the proximal arm of chromosome 15}}
Published	02/10/2024	Features of {{c2::Prader-Willi}} Syndrome {{c1::Constant insatiable hunger that leads to obesity (Key Feature)}} {{c1::Poor muscle tone as an inf…
Published	02/10/2024	Cause of {{c2::Angelman}} Syndrome is {{c1::loss of function of the UBE3A gene}}
Published	02/10/2024	Features of {{c2::Angelman}} Syndrome {{c1::Unusual fascination with water}} {{c1::Happy demeanour}} {{c1::Widely spaced teeth}} {{c1::Inappropriate l…
Published	02/10/2024	Cause of {{c2::William}} Syndrome is {{c1::deletion of genetic material on one copy of chromosome 7}}
Published	02/10/2024	Features of {{c2::William}} Syndrome {{c1::Very socialable personality}} {{c1::Starburst eyes}} {{c1::Wide mouth with big smile}}
Published	02/10/2024	Complications of {{c2::William}} Syndrome {{c1::Supravalvular aortic stenosis}} {{c1::Hypercalaemia}}
Published	02/10/2024	{{c1::Down}} Syndrome’s associated complication is {{c2::ventricular septal defect (Pansystolic murmur)}}
Published	02/10/2024	{{c1::Turner}} Syndrome’s associated complication is {{c2::coarctation of the aorta (Reduced femoral pulses)}}
Published	02/10/2024	{{c1::Noonan}} Syndrome’s associated complication is {{c2::pulmonary stenosis (Ejection systolic murmur)}}
Published	02/10/2024	{{c1::William}} Syndrome’s associated complication is {{c2::supravalvular aortic stenosis}}
Status	Last Update	Fields