Health and Fitness

Stickler Syndrome Overview Stickler syndrome is a genetic condition that affects connective tissues that support and give structure to other organs in your body, primarily in the face, ears, eyes and joints. This hereditary condition can cause facial abnormalities like a cleft palate. The condition can lead to problems with vision, hearing and movement. Stickler syndrome is also known as Stickler dysplasia. Stickler syndrome can affect anyone. People who have a family member with Stickler syndrome are at a higher risk of having the condition. But in some people, a spontaneous genetic change (mutation) causes the condition and there’s no tie to family history. Symptoms Stickler syndrome affects different children in different ways. One child could have a mild form of the syndrome with just a few symptoms that may be so mild that they go undiagnosed or never need treatment. Another child may have most of the symptoms listed below. Here are some of the more common symptoms of Stickler syn...

Morbid Obesity Overview Class III obesity, formerly known as morbid obesity, is a complex chronic disease in which you have a body mass index (BMI) of 40 or higher. The BMI scale isn’t always accurate. So, healthcare providers may use other tests and tools to assess obesity. Class III obesity can lead to several serious health conditions, like Type 2 diabetes and heart disease. The good news is that it’s treatable. There’s no quick fix. But together, you and your healthcare team can create a tailored plan to reach a weight that’s healthy for you. Symptoms There are no specific symptoms of class III obesity. The main feature of class III obesity is having a body mass index (BMI) of 40 or higher. Class III obesity can cause side effects and complications in many parts of your body. Complications Class III obesity can contribute to the development of several health conditions, including: Atherosclerosis (plaque buildup inside your arteries) Breathing issues, like obesity hypoventilation s...

H3N2 Virus Overview There are four distinct kinds of influenza viruses that are responsible for the infectious disease known as the flu: A, B, C, and D. The H3N2 subtype of Influenza A is one of several subtypes. The H3N2 infection is exceptionally infectious and spreads effectively from one individual to another through respiratory droplets. The virus infect other people if an infected person coughs, sneezes, or speaks. Touching contaminated surfaces with your mouth, nose, or eyes can also spread the virus. The influenza A virus subtype H3N2 is responsible for the highly contagious respiratory illness known as H3N2 flu. Mutation: New strains of the influenza virus can emerge due to rapid mutation. Since the H3N2 virus is susceptible to mutagenesis and evolution, predicting the severity of each flu season is challenging. Sensitivity of the host: People who haven’t been exposed to the virus before or whose immune systems are weaker may be more likely to get the H3N2 flu. Crowded livin...

Spondylocostal Dysostosis Overview Spondylocostal dysostosis (SCD) is a rare, inherited skeletal disorder characterized by severe malformations of the spine and ribs, leading to a short trunk, a short neck, and sometimes respiratory problems due to a restricted chest cavity. It is caused by genetic mutations and is sometimes known as Jarcho-Levin syndrome. Treatment focuses on managing symptoms, especially breathing issues, through conservative measures and, in some cases, surgery, with management being a multidisciplinary effort.    Symptoms Skeletal Abnormalities: Short trunk and short neck: The trunk is disproportionately short for the limbs.  Spinal defects: Including vertebral fusions and hemivertebrae (half-vertebrae).  Rib abnormalities: Such as missing ribs, fused ribs, or extra ribs.  Scoliosis: A curvature of the spine.  Respiratory Problems: Small, malformed chest: This severely restricts lung capacity and the ability of the lungs to expand....

Spodylocostal dysostosis 2 Overview Spondylocostal dysostosis is a rare, inherited skeletal disorder characterized by malformations of the spine and ribs, leading to a short trunk and neck, and often causing life-threatening respiratory problems due to a reduced-size chest cavity. It is a congenital (present at birth) condition, with diagnosis made in the newborn period. While some individuals may survive into adulthood, particularly with milder forms, many experience severe respiratory issues and may have associated conditions like spina bifida.  Symptoms Skeletal and Physical Symptoms Short Trunk and Neck : The most defining feature is a short torso and a short, rigid neck due to malformed vertebrae and ribs.  Abnormal Spine: There are many segmentation defects in the vertebrae, including malformed, fused, or absent vertebrae. This can result in scoliosis (side-to-side curvature of the spine).  Rib Abnormalities : Ribs can be fused together or missing, contributing to t...

Spodylocostal Dysostosis 1 Overview Spodylocostal Dysostosis 1 (SCDO1) is a rare, inherited genetic disorder characterized by a range of vertebral and rib abnormalities, leading to a short trunk and restricted chest development. Symptoms include malformed, fused vertebrae and ribs, short necks, a small chest, and potentially life-threatening respiratory problems at birth. While some individuals with SCOL1 can live to adulthood, severe cases pose significant challenges, and management focuses on respiratory support and managing complications like hernias and scoliosis.  Symptoms Short Trunk and Neck: Affected individuals often have a short torso and a short, rigid neck.  Small Chest: A malformed and small chest can restrict lung capacity and lead to breathing difficulties.  Normal-Length Limbs: Unlike some other skeletal conditions, arms and legs are typically of normal length.  Respiratory Issues: The reduced chest size limits lung expansion, which can cause dysp...

Spina Bifida and Hydrocephalus awareness Overview Spina bifida awareness is promoted on World Spina Bifida and Hydrocephalus Day, observed annually on October 25th to raise understanding of these birth defects and advocate for affected individuals' rights. Spina bifida is a defect where the spine and spinal cord don't close properly during pregnancy, while hydrocephalus is a buildup of fluid in the brain that can occur as a complication of spina bifida. Awareness campaigns aim to reduce stigma and promote inclusion for people with these conditions, highlighting that timely care can lead to fulfilling lives.   What are Spina Bifida and Hydrocephalus? Spina Bifida: A neural tube defect where the spine doesn't close completely during early pregnancy, potentially exposing the spinal cord to damage. It ranges in severity, from mild forms with no outward symptoms to severe forms where spinal elements protrude.  Hydrocephalus: A condition characterized by an excess buildup of c...

Sotos Syndrome Overview Sotos syndrome, also known as cerebral gigantism, is a rare genetic condition that causes children to grow faster than other children their age. Characteristics of Sotos syndrome include: Tall stature. Large head with distinct facial features. Cognitive impairment (learning disabilities). Behavioral challenges. Symptoms Since Sotos syndrome causes physical overgrowth, children with this diagnosis have some defining characteristics. Physical symptoms of the condition include: A high forehead. A long, narrow face. A pointed chin. Downward slanting eyes (palpebral fissures). Increased arm span. Weak muscle tone (hypotonia). Tall stature. Causes A mutation in the NSD1 gene causes Sotos syndrome. The NSD1 gene gives your body instructions on how to grow and develop. When a mutation affects the NSD1 gene, your genes can’t regulate your body’s growth, causing children diagnosed with Sotos syndrome to be taller than their peers. Complications Children diagnosed with Sot...

Sudden infant death syndrome (SIDS) Overview Sudden infant death syndrome is the unexplained death of a baby. The baby is usually less than a year old and seems to be healthy. It often happens during sleep. Sudden infant death syndrome also is known as SIDS. It is sometimes called crib death because infants often die in their cribs. The cause of SIDS is unknown. But it may be caused by problems in the area of an infant's brain that controls breathing and waking up from sleep. Researchers have found some things that might put babies at higher risk. They've also found some things you can do to help protect your child from SIDS. The most important action may be to place a baby on the back to sleep. Causes Both physical and sleep factors put an infant at risk of SIDS. These factors vary from child to child. Physical factors Physical factors associated with SIDS include: Brain defects . Some infants are born with problems that make them more likely to die of SIDS. In many of these b...