Health and Fitness

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...

  Berdon syndrome Overview Berdon syndrome, also known as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), is a rare, generally fatal autosomal recessive genetic disorder characterized by an abnormally large, non-obstructed urinary bladder (megacystis), an underdeveloped colon (microcolon), and reduced or absent intestinal peristalsis (hypoperistalsis), leading to functional intestinal obstruction. Symptoms include severe abdominal distension, failure to pass meconium, and voiding problems. While historically having a poor prognosis, advances in supportive treatments and management have led to increased survival rates.   Symptoms Megacystis : A significantly enlarged and non-obstructed urinary bladder, often visible on prenatal ultrasound, which is the most prominent symptom.  Microcolon: An abnormally small colon.  Intestinal Hypoperistalsis: Poor or absent movement of the intestinal muscles, leading to a lack of normal peristalsis.  Ab...

 Basan syndrome overview Basan syndrome is a rare, inherited skin disorder, specifically an autosomal dominant ectodermal dysplasia, characterized by the absence of fingerprints, congenital facial milia, rapidly healing neonatal blisters on the hands and feet, and reduced sweating. Other features can include digital contractures, thickened skin on palms and soles (palmoplantar keratoderma), nail abnormalities, and single transverse palmar crease. Caused by mutations in the SMARCAD1 gene, it affects the development of epidermal ridges and sweat glands.  Symptoms Skin & Fingerprints Congenital absence of fingerprints (Adermatoglyphia): A defining characteristic, with smooth skin on the palms and soles.  Transient congenital milia: Small, white, keratin-filled cysts that appear on the face and other areas shortly after birth and usually resolve.  Neonatal acral bullae : Blistering, often on the fingers and soles, that heals rapidly in the neonatal period.  Pa...

Bardet-Biedl syndrome (BBS) Overview Bardet-Biedl (BAR-day, BEE-dul) syndrome, also called BBS, is a rare condition caused by changes in genes. BBS can affect almost any part of the body. Starting in early childhood, extra weight gain and vision loss can happen. People with BBS also can have issues that include kidney conditions, changes in sex organ development, and extra fingers or toes. The condition can affect speaking, learning, thinking and memory. There is no cure for Bardet-Biedl syndrome, but early diagnosis and treatment for conditions related to BBS can ease symptoms, lessen complications and help with a better quality of life. Because BBS can affect many body systems, different specialists may be needed to manage care. Symptoms Symptoms of Bardet-Biedl syndrome develop slowly. The symptoms usually are noticed during the first 10 years of life, but sometimes later. Symptoms and when they begin can vary greatly among people with BBS. Some people may have only a few mild sympt...

Amelogenesis Imperfecta Overview Amelogenesis imperfecta is a genetic disorder that causes problems with how your tooth enamel forms. Enamel is the tough outer coating of your teeth that protects the delicate tissue inside. With amelogenesis imperfecta, not enough enamel forms. Or, the enamel that does form isn’t as strong as it should be. The disorder can cause your teeth to be discolored and weak. Amelogenesis imperfecta can make you feel self-conscious about your smile and anxious about tooth injuries that may land you in the dentist’s chair. Although it may take some time and patience, there are treatments that can strengthen your teeth and improve how they look. Types of amelogenesis imperfecta There are four main types of amelogenesis imperfecta, including: Type 1 — Hypoplastic. With enamel hypoplasia, not enough enamel forms. The enamel you do have may be thin. You may have smaller-than-average teeth with rough surfaces. Type 2 — Hypomaturation. This type happens when the prot...

Alport Syndrome   Overview Alport syndrome is a genetic condition in which your kidneys don’t produce normal type IV collagen proteins. Type IV collagen consists of three individual collagen chains (alpha chains) that twist together like rope. The chains are alpha 3, alpha 4 and alpha 5. If your body doesn’t produce one of these chains, the other two can’t combine. This results in the most severe Alport syndrome symptoms. If your body produces all of the chains but doesn’t make one correctly, sometimes the chains can’t combine and other times the chains combine but don’t function properly. Alport syndrome symptoms may be milder in these instances. Type IV collagen is an important protein in the filtration membranes in your kidneys (glomerular basement membranes or GBM). The GBM is part of a three-layer structure that filters your blood to remove toxins and other contents that your body doesn’t need to make urine (pee). The GBM also make sure that contents like blood cells and prote...