Health and Fitness

Congenital Generalized Lipodystrophy Overview Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is a rare genetic disorder characterized by the near total loss of body fat (adipose tissue) and extreme muscularity that is often present at birth or soon thereafter. CGL is associated with metabolic complications related to insulin resistance such as an inability to break down (metabolize) glucose intolerance (high blood glucose levels after oral glucose administration), elevated levels of triglycerides (fat) in the blood (hypertriglyceridemia) and diabetes. Diabetes associated with CGL is often very difficult to treat. Additional complications such as those affecting the liver and heart can also occur. The symptoms and severity of CGL can vary greatly from one person to another. There are four different subtypes of CGL each caused by changes (variants) in different genes. All the known types of CGL are inherited in an autosomal recessive pattern. Lipody...

Myelomeningocele Overview What is myelomeningocele? Myelomeningocele (also known as open spina bifida) is a congenital condition (birth defect) in which your child’s backbone (spine) and spinal canal don’t close before birth. It’s a type of neural tube defect (NTD). Myelomeningocele is pronounced MY-eh-lo-men-IN-go-seal. Myelomeningocele develops in a fetus during the first four weeks of pregnancy. Myelomeningocele is characterized by incomplete neural tube closure and a fluid-filled sac that protrudes from your baby’s back. The sac contains: Part of their spinal cord. Meninges (tissues covering their spinal cord). Nerves. Cerebrospinal fluid (CSF). Myelomeningocele can happen anywhere along your baby’s spinal cord. It most commonly occurs in their low back (lumbar and sacral areas). The part of the spinal cord and the nerves in the sac are damaged, which usually results in weakness and/or loss of sensation to the part of the body below where the sac is located. In some cases, the sac ...

 Benign recurrent intrahepatic cholestasis  Overview  Benign recurrent intrahepatic cholestasis (BRIC) is a rare, inherited liver disorder characterized by repeated, temporary episodes of cholestasis—a condition where the flow of bile from the liver is reduced or blocked. Despite severe symptoms during an attack, the disease is "benign" because it does not cause permanent, progressive liver damage or cirrhosis. Symptoms An episode typically starts in adolescence or young adulthood (teens or twenties) and includes the following signs: • Severe Itchiness (Pruritus): This is usually the very first symptom to appear, often becoming intense and debilitating before other signs show up. • Jaundice: A few weeks after the itching starts, the skin and the whites of the eyes turn yellow. • Dark Urine and Pale Stools : Urine may become dark or tea-colored, while bowel movements can turn pale, clay-colored, or acholic due to a lack of bile entering the gut. • Digestive and GI Issues:...

Overview Peyronie's (pay-roe-NEEZ) disease is a condition in which fibrous scar tissue forms in the deeper tissues under the skin of the penis. This causes curved, painful erections. It also can make the penis shorter while erect. Peyronie's disease is not caused by cancer. Penises vary in shape and size. So having a curved erection isn't always a cause for concern. But Peyronie's disease causes a serious bend or pain in some people. This can prevent you from having sex. Or it might make it hard to get or keep an erection, which also is called erectile dysfunction. For many people, Peyronie's disease also causes stress and anxiety. Peyronie's disease rarely goes away on its own. In most people with the condition, it will remain as is or may get slightly worse early on. Early treatment soon after you get the condition may keep it from getting worse or even improve symptoms. Even if you've had Peyronie's disease for some time, treatment may help ease sympt...

Benign essential blepharospasm (BEB) Overview Benign essential blepharospasm (BEB) is a chronic neurological movement disorder marked by involuntary, repetitive spasms and contractions of the eyelid muscles. It typically begins with increased blinking or eye irritation, and can progress to forceful, sustained eyelid closures that impair vision. Symptoms • Increased blinking: Blinking happens more often and may start in one eye before moving to both eyes. • Eye irritation: The eyes may feel dry, gritty, or tired. • Environmental sensitivity: Bright sunlight, wind, air pollution, or dust can make the symptoms worse. • Involuntary eyelid closing : Spasms become stronger, causing the eyelids to narrow or clamp shut. • Difficulty keeping eyes open: It becomes hard or impossible to voluntarily keep the eyes open during episodes. • Functional blindness: In severe cases, prolonged or sustained eyelid closure blocks vision even though the eye structure itself remains healthy. • Bilateral in...

 Beare-Stevenson cutis gyrata syndrome Overview Beare-Stevenson cutis gyrata syndrome is a rare, life-threatening genetic disorder caused by specific mutations in the FGFR2 (fibroblast growth factor receptor 2) gene, inherited in an autosomal dominant pattern. Symptoms • Craniosynostosis: Premature closure of the skull sutures, frequently resulting in a cloverleaf-shaped skull (kleeblattschädel) in over half of cases. • Facial appearance: Bulging eyes (proptosis), wide-set eyes (hypertelorism), downward-slanting eyelids (downslanted palpebral fissures), drooping eyelids (ptosis), and an underdeveloped upper jaw (midface hypoplasia/retrusion). • Ear defects: Abnormalities of the earlobes, narrow or stenotic ear canals, and conductive hearing loss. • Cutis gyrata: Thick, furrowed, and wrinkled skin resembling a corrugated pattern, most commonly seen on the face, forehead, neck, ears, palms, and soles. • Acanthosis nigricans: Thick, dark, velvety skin patches, typically appearing o...