Harlequin syndrome, also known as Harlequin sign, is a rare neurological disorder characterized by sudden and dramatic changes in skin color and temperature on one side of the face and upper body. Symptoms –Harlequin syndrome reflects following symptoms that makes us realize the problem –• Unilateral flushing and sweating: One side of the face and […]
Achalasia is a rare and chronic disorder that affects the esophagus, the tube responsible for carrying food and liquids from the mouth to the stomach. It primarily affects the lower esophageal sphincter (LES), a muscular ring that opens to allow food into the stomach and closes to prevent stomach acid from flowing back into the […]
Helmers Myopathy, also known as Scapuloperoneal Syndrome, is a rare genetic disorder that affects muscle strength and mobility. This condition is characterized by weakness and wasting of the muscles in the lower legs, shoulders, and pelvis. Symptoms-The symptoms of Helmers Myopathy can vary depending on the individual and the severity of the condition. Some common […]
Ramsay Hunt syndrome or herpes zoster oticus, is a rare neurological disorder that occurs when the varicella-zoster virus (shingles) reactivates and spreads to the facial nerves near your inner ear. It typically affects adults over 60 years of age. It is a complication of varicella-zoster virus infections, including chickenpox or shingles (herpes zoster).The disorder is the second most common […]
Microcephaly is a rare neurological condition in which a baby’s head is smaller than average for an infant’s size and age. The baby is either born with a smaller head (congenital), or the condition develops as the baby gets older (acquired). Microcephaly is rare, occurring in 2-12 babies per 10,000 births. Symptoms –The main defining […]
Adams-Oliver syndrome (AOS) is a rare inherited condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. AOS affects males and females in equal numbers. AOS occurs in about 44 out of every 10 million people and is present at birth. Symptoms […]
Fontaine progeroid syndrome is a rare disease which is a genetic syndrome that is often diagnosed before birth.This syndrome is also known as Gorlin-Chaudhry-Moss syndrome, Craniofacial Dysostosis, Hypertrichosis, and Hypoplasia Of Labia Majora.Fontaine progeroid syndrome is a multisystem connective tissue disorder characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin […]
Wilson’s disease, also known as hepatolenticular degeneration and progressive lenticular degeneration, is a rare genetic disorder that causes copper poisoning in the body. It affects about 1 in 30,000 people worldwide. In a healthy body, the liver filters out excess copper and releases it through urine. With Wilson’s disease, the liver cannot remove the extra […]
Albinism is a rare genetic disorder where you aren’t born with the usual amount of melanin pigment. Melanin is a chemical in your body that determines the color of your skin, hair and eyes. Most people with albinism have very pale skin, hair and eyes. They are prone to sunburn and skin cancer. Melanin also is […]
Brittle bone disease is a genetic bone disorder that results in fragile bones that break easily. It is present at birth and usually develops in children who have a family history of the disease. The disease is often referred to as osteogenesis imperfecta (OI), which means “imperfectly formed bone.”Approximately one person in 20,000 will develop brittle […]