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Rickets

Rickets is a condition that results in weak or soft bones in children. Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping. Complications may include bone fractures, muscle spasms, an abnormally curved spine, or intellectual disability. The most common cause is vitamin D deficiency. This can result from eating a diet without enough vitamin D, dark skin, too little sun exposure, exclusive breastfeeding without vitamin D supplementation, celiac disease, and certain genetic conditions. Other factors may include not enough calcium or phosphorus. The underlying mechanism involves insufficient calcification of the growth plate. Diagnosis is generally based on blood tests finding a low calcium, low phosphorus, and a high alkaline phosphatase together with X-rays. Prevention includes vitamin D supplements for exclusively breastfed babies. Treatment depends on the underlying cause. If due to a lack of vitamin D, treatment is usually with vitamin D and calcium. This generally results in improvements within a few weeks. Bone deformities may also improve over time. Occasionally surgery may be done to fix bone deformities. Genetic forms of the disease typically require specialized treatment. Rickets occurs relatively commonly in the Middle East, Africa, and Asia. It is generally uncommon in the United States and Europe, except among certain minority groups. It begins in childhood, typically between the ages of 3 and 18 months old. Rates of disease are equal in males and females. Cases of what is believed to have been rickets have been described since the 1st century, and the condition was widespread in the Roman Empire. The disease was common into the 20th century. Early treatments included the use of cod liver oil. Signs and symptoms of rickets can include bone tenderness, and a susceptibility for bone fractures particularly greenstick fractures. Early skeletal deformities can arise in infants such as soft, thinned skull bones – a condition known as craniotabes, which is the first sign of rickets; skull bossing may be present and a delayed closure of the fontanelles. Young children may have bowed legs and thickened ankles and wrists; older children may have knock knees. Spinal curvatures of kyphoscoliosis or lumbar lordosis may be present. The pelvic bones may be deformed. A condition known as rachitic rosary can result as the thickening caused by nodules forming on the costochondral joints. This appears as a visible bump in the middle of each rib in a line on each side of the body. This somewhat resembles a rosary, giving rise to its name. The deformity of a pigeon chest may result in the presence of Harrison's groove. Hypocalcemia, a low level of calcium in the blood can result in tetany – uncontrolled muscle spasms. Dental problems can also arise. An X-ray or radiograph of an advanced sufferer from rickets tends to present in a classic way: the bowed legs (outward curve of long bone of the legs) and a deformed chest. Changes in the skull also occur causing a distinctive 'square headed' appearance known as 'caput quadratum'. These deformities persist into adult life if not treated. Long-term consequences include permanent curvatures or disfiguration of the long bones, and a curved back.

[ "Vitamin D and neurology", "HYPOPHOSPHATEMIC BONE DISEASE", "Vitamin D-dependent rickets", "Vitamin D-dependent rickets type I", "PHEX", "Hereditary hypophosphatemia" ]
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