Rare Disease Show- Episode 10: Understanding Noonan Syndrome Ft. Dr Parth Devendra Dalal - Video
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Overview
Medical Dialogues presents a rare disease series, delving into the realm of uncommon medical conditions. Rare diseases are medical conditions that affect only a small percentage of the population. Throughout this series, we'll discuss these rare diseases in various episodes, with medical experts providing clear explanations and insights.
Rare Disease Show Episode 10 -- In today's show we will cover Noonan Syndrome.
Noonan syndrome is a genetic disorder that affects various parts of the body. It is characterized by distinctive facial features, short stature, heart defects, and developmental delays. People with Noonan syndrome may also have issues with bleeding, skeletal abnormalities, and learning disabilities. The syndrome is caused by mutations in certain genes and is often inherited in an autosomal dominant pattern, meaning a child can inherit the condition from just one affected parent. Treatment focuses on managing symptoms and complications, as there is no cure for Noonan syndrome.
In this episode, Dr Parth Devendra Dalal, a Pediatrician shares his insights by addressing questions asked by the Medical Dialogues team.
1. Firstly, why is this disease classified as a rare disease? Also, if you can highlight on the most common symptoms of Noonan syndrome, and how do they typically present in children?
2. How is Noonan syndrome diagnosed in pediatric patients, and what tests are commonly used?
3. Can you explain the typical growth and developmental challenges that children with Noonan syndrome might face?
4. What treatment options are available for managing the symptoms and complications associated with Noonan syndrome?
5. Are there specific therapies or interventions that can help improve quality of life for children with Noonan syndrome?
6. What are the potential long-term health concerns for children with Noonan syndrome as they grow into adulthood?
7. How important is early intervention in the management of Noonan syndrome, and what role does it play in treatment outcomes?
Speakers
Dr. Nandita Mohan
BDS, MDS( Pedodontics and Preventive Dentistry)
Dr. Nandita Mohan is a practicing pediatric dentist with more than 5 years of clinical work experience. Along with this, she is equally interested in keeping herself up to date about the latest developments in the field of medicine and dentistry which is the driving force for her to be in association with Medical Dialogues. She also has her name attached with many publications; both national and international. She has pursued her BDS from Rajiv Gandhi University of Health Sciences, Bangalore and later went to enter her dream specialty (MDS) in the Department of Pedodontics and Preventive Dentistry from Pt. B.D. Sharma University of Health Sciences. Through all the years of experience, her core interest in learning something new has never stopped. She can be contacted at editorial@medicaldialogues.in. Contact no. 011-43720751
Dr Parth Devendra Dalal (MBBS, MD (Paediatrics), DrNB (Paediatric Intensive Care), Fellowship (ECMO)) is a Consultant (Paediatrics) at Manipal Hospitals, Kharadi, Pune. He has more than 5 years of experience as a Paediatrician and a Paediatric Intensivist. Dr Parth has expertise in the management of sick and critically ill children and is proficient in advanced airway placement, invasive line insertion, point-of-care ultrasound and ultrasound-guided procedures, advanced mechanical ventilation, HFOV, Renal replacement therapy and ECMO.
