Paediatrics: Williams Syndrome: Free MSRA Podcast

⚕️ FREE MSRA PODCAST – Williams Syndrome🎧 A clear, high-yield breakdown of this rare genetic condition – perfect for exam prep and real-life clinical scenarios.🧠 Key Learning Points📌 Definition• Williams Syndrome is a rare genetic disorder caused by a microdeletion on chromosome 7q11.23, affecting multiple systems, including cardiovascular, neurological, and facial development.📌 Causes & Risk Factors• Microdeletion on chromosome 7 (usually de novo)• Includes the elastin (ELN) gene• No known environmental/lifestyle risk factors• Mnemonic: "7’s lucky, but deletion = not so lucky!"📌 Pathophysiology• Hemizygous deletion → elastin deficiency• Elastin loss causes supravalvular aortic stenosis (SVAS)• Deletion impacts brain development, connective tissue, endocrine function📌 Symptoms• "Elfin" facial features: broad forehead, full lips, wide mouth• SVAS & peripheral pulmonary stenosis• Developmental delay & learning disability• Friendly, talkative, anxious personality• Hypercalcaemia in infancy• Joint hypermobility or stiffness, hoarse voice• Short stature, feeding difficulties• Cognitive profile: strong verbal, weak spatial skills📌 Differential Diagnosis• Down syndrome• DiGeorge (22q11.2) syndrome• Autism spectrum disorder• Noonan syndrome📌 Diagnosis• Chromosomal microarray: gold standard• FISH (fluorescent in situ hybridisation)• MLPA or karyotyping for confirmation• Echocardiogram to assess SVAS/PPS• Serum calcium, thyroid, renal, hearing & vision assessments📌 Management• Multidisciplinary: paediatrics, cardiology, genetics, therapy• Early intervention: SLT, OT, PT, educational support• Cardiac surgery if severe SVAS• Behavioural therapies (anxiety, ADHD)• Regular follow-ups: calcium, BP, hearing, kidneys• Vocational support, psychological input📌 Complications• Cardiovascular disease• Learning & developmental difficulties• Hypercalcaemia, hypothyroidism• Feeding problems, hernias, diverticulosis• Anxiety, ADHD📌 Prognosis• Lifelong support often required• Many lead fulfilling lives with early intervention• Cardiac issues = major cause of premature mortality📎 More MSRA Resources for Williams Syndrome📝 Revision Notes: https://www.passthemsra.com/topic/williams-syndrome-revision-notes/🧠 Flashcards: https://www.passthemsra.com/topic/williams-syndrome-flashcards/💬 Accordion Q&A Notes: https://www.passthemsra.com/topic/williams-syndrome-accordion-qa-notes/🚀 Rapid Quiz: https://www.passthemsra.com/topic/williams-syndrome-rapid-quiz/🎓 Full Course: https://www.passthemsra.com/courses/paediatrics-for-the-msra/🧪 Quiz Bank: https://www.passthemsra.com/quizzes/williams-syndrome/#MSRA #MSRARevision #MSRATextbook #MSRAQuiz #MSRAQuestionBank #MSRAFlashcards #MSRAQ&ANotes #MSRAAccordions #MultiSpecialityRecruitmentAssessment #MSRAOnlineRevision #MSRARevisionWebsite #Paediatrics #WilliamsSyndrome