Health and Fitness

Dextrocardia Dextrocardia is a change in how your heart is positioned in your chest. It means your heart is on the right side of your chest and points to the right. This makes it a mirror image of a typical heart. Normally, your heart is on the left side of your chest and points to the left. Dextrocardia is a congenital heart defect, meaning you’re born with it. On its own, dextrocardia isn’t serious. It doesn’t cause symptoms or complications. And it doesn’t need treatment. But many people with dextrocardia are also born with other conditions. And those conditions may cause problems that need medical attention. Dextrocardia is rare. It occurs in about 1 in every 12,000 pregnancies. Types of this condition Dextrocardia can occur on its own or along with other changes to your anatomy. You might have: Isolated dextrocardia. Your heart is flipped from left to right, but all your other organs are arranged normally. You don’t have other heart defects, and your heart functions normally. You...

CREST syndrome Overview CREST syndrome, now also known as limited cutaneous systemic sclerosis, is a connective tissue disorder characterized by five main features that form the acronym: Calcinosis (calcium deposits), Raynaud's phenomenon (cold-sensitive blood vessel spasms), Esophageal dysmotility (difficulty swallowing), Sclerodactyly (thickened skin on the fingers), and Telangiectasia (dilated blood vessels). The syndrome primarily affects the skin in the hands and face and is managed with treatments for its specific symptoms, such as antiacids for reflux, lotions for skin, and medication for blood pressure.   Symptoms Calcinosis : Hard lumps of calcium deposits form under the skin, especially in the fingers.  Raynaud's phenomenon: Episodes where fingers or toes become white or blue in response to cold or stress.  Esophageal dysfunction: Difficulty swallowing (dysphagia), acid reflux, and heartburn.  Sclerodactyly: Thickening and tightening of the skin on ...

Cowden Syndrome Cowden syndrome is a rare genetic (inherited) condition. People with Cowden syndrome often have many noncancerous, tumor-like growths. They may also have an increased risk of developing certain cancers. Symptoms Most people are in their 20s before they notice changes in their body that may be Cowden syndrome signs and symptoms. People may be diagnosed with Cowden syndrome after seeking medical care for hamartomas or early-onset cancer. Hamartomas (pronounced “HA-mar-TOH-muhs”) are among the obvious and most common signs of Cowden syndrome. Hamartomas are noncancerous, tumor-like growths that can grow anywhere on or in your body but typically appear on your neck, face or head. Other Cowden syndrome symptoms include: A large head (macrocephaly). Small, smooth growths that form on your skin (trichilemmomas). Clear bumps on the soles of your feet, palms and the back of your hands (acral keratosis). Wart-like bumps on your tongue, gums, the back of your throat and your tonsi...

CIDP (Chronic Inflammatory Demyelinating Polyneuropathy) Overview CIDP (chronic inflammatory demyelinating polyneuropathy) is a rare neurological condition that causes worsening (progressive) muscle weakness, numbness and other symptoms. Breaking down the name of the condition helps to understand it: Chronic: “Chronic” means “long-term.” CIDP slowly develops over at least eight weeks. It can also improve and then come back (relapse) over the course of months or years. Inflammatory : Researchers think CIDP happens due to issues with your immune system, specifically a type of autoimmune attack. This causes excessive inflammation that damages your peripheral nerves— the nerves outside of your brain and spinal cord. Demyelinating: The inflammation specifically affects the myelin sheath of your nerves. This is the protective sleeve (sheath) that’s wrapped around each nerve cell (neuron). Demyelination refers to the destruction of the myelin sheath. Polyneuropathy: This is the malfunction ...

Tinnitus Overview Tinnitus is when you experience ringing or other noises in one or both of your ears. The noise you hear when you have tinnitus isn't caused by an external sound, and other people usually can't hear it. Tinnitus is a common problem. It affects about 15% to 20% of people, and is especially common in older adults. Tinnitus is usually caused by an underlying condition, such as age-related hearing loss, an ear injury or a problem with the circulatory system. For many people, tinnitus improves with treatment of the underlying cause or with other treatments that reduce or mask the noise, making tinnitus less noticeable. Symptoms Tinnitus is most often described as a ringing in the ears, even though no external sound is present. However, tinnitus can also cause other types of phantom noises in your ears, including: Buzzing Roaring Clicking Hissing Humming Most people who have tinnitus have subjective tinnitus, or tinnitus that only you can hear. The noises of tinnitus...

CADASIL Overview CADASIL, or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is a rare, inherited disorder that causes blood flow blockages in the brain, leading to stroke, dementia, and migraines with aura. Caused by mutations in the <<Huffman>NOTCH3 gene, it typically manifests in adults between ages 20 and 40 and requires a diagnosis confirmed by genetic testing or a skin biopsy. There is no cure, so management focuses on symptom treatment and reducing stroke risk factors, such as high blood pressure and smoking.   Symptoms Migraine with aura: Often the first symptom, appearing in early to mid-adulthood.  Strokes : Recurrent ischemic strokes are common, and they can lead to a progressive decline in cognitive function.  Cognitive decline: This can progress to dementia over time, affecting memory, thinking, and executive function.  Mood disturbances: Apathy, depression, and other mood issues can occur....

  Chediak-Higashi syndrome Overview Chediak-Higashi syndrome is a rare genetic disorder that impairs immune cells, leading to recurrent infections, and also affects pigment in the skin, hair, and eyes, causing a form of albinism. Key symptoms include recurrent bacterial infections, oculocutaneous albinism (light skin and hair, sometimes with a metallic sheen), and vision problems. Over time, neurological problems such as weakness, clumsiness, and difficulty walking can develop Symptoms Recurrent infections: Due to damaged immune cells, individuals are prone to serious and frequent bacterial and viral infections.  Oculocutaneous albinism: This is characterized by pale skin, light-colored hair that may have a metallic sheen, and possible vision problems like reduced sharpness, rapid eye movements (nystagmus), and sensitivity to light.  Neurological problems: These typically appear later and can include peripheral neuropathy, poor coordination (ataxia), and progressive mot...

Brugada syndrome Overview Brugada (brew-GAH-dah) syndrome is a rare but potentially life-threatening heart rhythm condition (arrhythmia) that is sometimes inherited. People with Brugada syndrome have an increased risk of irregular heart rhythms beginning in the lower chambers of the heart (ventricles). Treatment of Brugada syndrome includes preventive measures such as reducing fever and avoiding medications that might trigger the arrhythmia. Some people with Brugada syndrome need a medical device called an implantable cardioverter-defibrillator (ICD). Symptoms Brugada syndrome often doesn't cause any noticeable symptoms. Many people with Brugada syndrome don't know they have it. Signs and symptoms that may be associated with Brugada syndrome include: Dizziness Fainting Gasping and labored breathing, particularly at night Irregular heartbeats or palpitations Extremely fast and chaotic heartbeat Seizures A major sign of Brugada syndrome is an irregular result on an electrocardiog...

Blue Rubber Bleb Nevus Syndrome (BRBNS) Overview Blue rubber bleb nevus syndrome (BRBNS), sometimes called Bean syndrome, is a rare congenital vascular anomaly in which malformed veins, or blebs, appear on the skin and surfaces of internal organs. These small, purple lesions are particularly common in the gastrointestinal (GI) tract. While a child with BRBNS can have hundreds of blebs on the skin, clinicians are generally more concerned with GI blebs, as they can bleed and cause anemia requiring iron supplements and blood transfusions. There is no single accepted treatment for blue rubber bleb nevus syndrome. Both GI and skin blebs can be treated with surgery or sclerotherapy. However, doctors typically leave blebs on the skin alone unless they cause cosmetic problems, pain or, if located on the soles of the feet, difficulty walking. Blebs can appear and grow throughout a child’s lifetime, but those that are removed do not  Symptoms   No two children experience BRBNS in exactl...

  Bloom-Torre-Machacek syndrome Overview Bloom-Torre-Machacek syndrome, more commonly known as Bloom syndrome, is a rare, inherited genetic disorder characterized by short stature, a photosensitive butterfly-shaped rash, genomic instability, and a significantly increased risk for various cancers, especially in early life. It is caused by mutations in the BLM gene, leading to problems with DNA maintenance. Symptoms include a narrow face, small jaw, and increased frequency of infections, diabetes, and infertility.  Symptoms Growth Deficiency: Individuals are typically born with a low birth weight and remain shorter than average throughout their lives.  Skin Lesions: A characteristic feature is a sun-sensitive, red rash (erythema) on the face, particularly the cheeks and nose, which may also appear on the back of the hands and neck.  Telangiectasias: Small, dilated blood vessels may be seen in the skin rash and in the eyes.  Altered Pigmentation: Patches of skin...