Notes in LE013 Genetic Conditions Frequently Encountered in Adults

To Subscribe, use this Key

Status	Last Update	Fields
Published	10/12/2024	{{c1::Chromosomal}} disorders are caused by the effects of many contiguous genes
Published	10/12/2024	{{c1::Single gene}} disorders are caused by one gene with a major effect
Published	10/12/2024	{{c1::Multifactorial}} disorders are caused by multiple genes (polygenic) or genes plus environmental factors contribute to the trait
Published	10/12/2024	{{c1::Klinefelter’s Syndrome}} (1/1000)Presentation: Tall stature, feminized physique, mild intellectual impairment, testicular atrophy,&nbs…
Published	10/12/2024	{{c1::Turner Syndrome}} (1/2500)Presentation: Lymphedema of hands/feet (newborn), teenager w/o menarche, cystic hygroma, webbed neck, broad …
Published	10/12/2024	{{c1::Neurofibromatosis Type 1}} (>1/3000)Presentation: (CICLOPSS) {{c1::cafe-au-lait spots, intellectual disability, cutaneous neurofibr…
Published	10/12/2024	Syndromes that LOOK like neurofibromatosis, but aren’t (Familial cafe-au-lait-osis){{c1::Legius syndrome}}–similar to NF1, but no tumorsCharacteristic…
Published	10/12/2024	{{c1::Marfan syndrome}} (1/4000)Presentation: disproportionately long arms and legs, scoliosis, pectus (sternal) deformity, joint hypermobil…
Published	10/12/2024	The activating mutations of {{c1::Loeys-Dietz Syndrome}} are {{c2::TGFBR1}}, {{c2::TGFBR2}}, {{c2::TGFB3}}.Characterized by&n…
Published	10/12/2024	{{c1::Beals syndrome}} is caused by mutation of {{c2::FBN2}}.Similar to Marfan syndrome. Characterized by contractures of fingers (camp…
Published	10/12/2024	{{c1::Achondroplasia (Skeletal Dysplasia)}}(1/$$25,000$$)Presentation: rhizomelic shortening (short limbs), relatively large head, lumbar lo…
Published	10/12/2024	Other FGFR-related disordersFGFR3: includes other short stature/bone dysplasia syndromes such as {{c1::Hypochondroplasia}} and {{c1::th…
Published	10/12/2024	Hyperlipidemias, including {{c1::hypercholesterolemia}}, {{c1::hypertriglyceridemia}}, and {{c1::mixed hyperlipidemia}} are etiolo…
Published	10/12/2024	Familial hypercholesterolemia is caused by {{c1::excess LDL}} due to defective {{c1::LDL receptors}} (other genes may cause this p…
Published	10/12/2024	Type II diabetes mellitus concordance in monozygotic twins is {{c1::50%}} and concordance in dizygotic twins is {{c1::20%}}
Published	10/12/2024	{{c1::Down syndrome (Trisomy 21)}} (1/800)Presentation: flat face, slanted palpebral fissures, anomalous ears, tongue thrusting, hypotonia, …
Published	10/12/2024	{{c1::Edwards syndrome (Trisomy 18)}} (1/6000, 3:1 F:M ratio)Presentation: multiple malformations; some distinct ones include microcephaly and in…
Published	10/12/2024	{{c1::Patau syndrome (Trisomy 13)}} (1/5000 - 1/10000)Presentation: multiple malformations; some distinct ones include CNS and cardiac abnormalit…
Published	10/12/2024	{{c1::Hemochromatosis}} (1/300 = most common autosomal recessive disease)Presentation: Increased iron uptake & storage in liver, heart, …
Status	Last Update	Fields