Health and Fitness

Overview C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. There is evidence of more than one type of inheritance. While many cases are sporadic, autosomal recessive, autosomal dominant, and germline mosaicism have all been suggested. At least some cases of C syndrome have been caused by dysfunction of the CD96 gene. Symptoms   Symptoms of this disease may start to appear during Pregnancy and as a Newborn. One of the major features of OTCS is a condition in which the skull is a triangular shape. This occurs due to premature closure of the bones (trigonocephaly or prominent metopic suture due to its premature fusion). Pat...

Overview Blue diaper syndrome is a rare, genetic metabolic disorder characterized by the incomplete intestinal breakdown of tryptophan, a dietary nutrient. Symptoms typically include digestive disturbances, fever, irritability and visual difficulties. Some children with blue diaper syndrome may also develop kidney disease. Symptoms Symptoms of blue diaper syndrome may include irritability, constipation, poor appetite, vomiting, and the failure to grow and gain weight at the expected rate (failure to thrive). Some children with Blue diaper syndrome may have frequent fevers and intestinal infections. Treatment Standard Therapies Children with blue diaper syndrome may be put on a diet that restricts their intake of calcium. It is hoped that a calcium restricted diet may help to prevent kidney damage. The diet should also be low in protein and the amount of vitamin D should be limited. Diagnosis and Management of Blue Diaper Syndrome A thorough clinical evaluation, followed by an examinati...

Overview Bohring-Opitz syndrome (BOS) is a rare, multiple anomaly syndrome that most often is evident at birth (congenital) and affects an individual’s growth, development, and variable organ-systems. Individuals with BOS often have severe growth restriction and are therefore quite small; they may have feeding difficulties, characteristic facial features, and the presence of a red or pink birthmark (nevus flammeus) on the forehead or eyelids. Individuals may also have seizures, heart anomalies, and a characteristic ‘BOS posture’ where the elbows are bent and wrists angle outwards. Symptoms  Symptoms of this disease may start to appear during Pregnancy and as a Newborn. The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis. Causes BOS is thought to be caused b...

Overview Benign paroxysmal positional vertigo (BPPV) is one of the most common causes of vertigo — the sudden sensation that you're spinning or that the inside of your head is spinning. BPPV causes brief episodes of mild to intense dizziness. It is usually triggered by specific changes in your head's position. This might occur when you tip your head up or down, when you lie down, or when you turn over or sit up in bed. Although BPPV can be bothersome, it's rarely serious except when it increases the chance of falls. You can receive effective treatment for BPPV during a doctor's office visit. Symptoms The signs and symptoms of benign paroxysmal positional vertigo (BPPV) may include: 1. Dizziness 2. A sense that you or your surroundings are spinning or moving (vertigo) 3. A loss of balance or unsteadiness 4. Nausea 5. Vomiting The signs and symptoms of BPPV can come and go and commonly last less than one minute. Episodes of BPPV can disappear for some time and then recur....

Overview Bell's palsy is a condition that causes sudden weakness in the muscles on one side of the face. In most cases, the weakness is temporary and significantly improves over weeks. The weakness makes half of the face appear to droop. Smiles are one-sided, and the eye on the affected side resists closing. Bell's palsy is also known as acute peripheral facial palsy of unknown cause. It can occur at any age. The exact cause is unknown. Experts think it's caused by swelling and inflammation of the nerve that controls the muscles on one side of the face. It could be caused by a reaction that occurs after a viral infection. Symptoms usually start to improve within a few weeks, with complete recovery in about six months. A small number of people continue to have some Bell's palsy symptoms for life. Rarely, Bell's palsy occurs more than once. Symptoms Signs and symptoms of Bell's palsy come on suddenly and may include: 1. Rapid onset of mild weakness to total paraly...

Overview Beckwith-Wiedemann syndrome (BWS) is a congenital growth disorder, which means it’s present at birth. BWS has various signs and symptoms, including a large body size at birth and taller-than-average height during childhood, a large tongue, and hypoglycemia (low blood sugar). In some children with BWS, parts of the body, such as the ears, may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth, known as hemihyperplasia, usually begins to slow by age 8. BWS can also lead to an increased risk of certain childhood cancers, most commonly Wilms tumor (kidney tumor) and hepatoblastoma (liver tumor). Symptoms  The whole range of physical features associated with Beckwith-Wiedemann syndrome are part of the 11p overgrowth spectrum. The 11p overgrowth spectrum is defined as overgrowth and other features associated with genetic changes at a specific chromosomal region known as 11p, the same region that causes Beckwith-Wiedemann syndrome. The featu...