genetic counseling

West Syndrome, also known as infantile spasms, is a rare but severe form of age-dependent epileptic encephalopathy that typically manifests in infancy. This devastating condition is characterized by the triad of infantile spasms, hypsarrhythmia on EEG, and developmental regression. Early recognition and prompt intervention are crucial for optimizing outcomes in affected infants.

In pediatric radiology, encountering rare anatomical variations alongside acute respiratory conditions presents unique diagnostic challenges. Situs inversus totalis, a congenital condition where major visceral organs are reversed from their normal positions, requires careful interpretation of radiological findings, particularly when complicated by acute respiratory infections. This case study examines a 3-month-old male patient presenting with significant respiratory symptoms and the radiological implications of this anatomical variation.

Favism is a genetic disorder that causes a severe reaction to consuming fava beans (also known as broad beans) and certain medications. This inherited condition occurs due to a deficiency in an enzyme called glucose-6-phosphate dehydrogenase (G6PD), which leads to the breakdown of red blood cells when exposed to specific triggers.

Understanding rare genetic conditions is crucial for healthcare providers and families alike. ARTX syndrome, also known as ATRX syndrome or Alpha-Thalassemia X-Linked Intellectual Disability syndrome, is a rare genetic condition that primarily affects males. This comprehensive guide explores the causes, symptoms, diagnosis, and management options for individuals living with ARTX syndrome.

Adams-Oliver Syndrome (AOS) is a rare congenital disorder characterized by the combination of aplasia cutis congenita (ACC) and terminal transverse limb defects. Named after...