"common in children and adults. Low blood calcifediol (25-hydroxy-vitamin D) can result from avoiding the sun. Deficiency results in impaired bone mineralization and bone damage which leads to bone-softening diseases, including rickets and osteomalacia. Being deficient in vitamin D can cause intestinal absorption of dietary calcium to fall to 15%. When not deficient, an individual usually absorbs between 60-80%. Rickets, a childhood disease, is characterized by impeded growth and soft, weak, deformed long bones that bend and bow under their weight as children start to walk. This condition is characterized by bow legs, which can be caused by calcium or"
"Craniodiaphyseal dysplasia Craniodiaphyseal dysplasia (also known as CDD or lionitis) is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy. These calcium deposits decrease the size of cranial foramina, and can also decrease the hole in the cervical spinal canal. In the few cases recorded, most of the sufferers died in childhood. The underlying genetics are uncertain. Among the medical signs are dacryocystitis, seizures, intellectual disability, and paralysis, each of which is a complication resulting from the diminutive foramina. A common sign reported as a"
"essential function relates to the growth and strengthening of muscles and bones, with 1% of calcium also undergoing a crucial role in protein functioning. A lack of calcium within the diet can ultimately lead to progressive bone diseases such as osteoporosis, which results in a loss of bone density due to the overactive osteoclasts reabsorbing bone matrix and overpowering the action of osteoblasts, which build calcium into the bone matrix. Early onset calcium deficiency can result in children developing brittle bones, inhibiting their ability to participate in sporting activities and general weight bearing activities, without an increased risk of fracture"
"chondroitin sulfate and osteocalcin. When there is insufficient nutrient minerals or osteoblast dysfunction, the osteoid does not mineralize properly, and it accumulates. The resultant disorder is termed rickets in children and osteomalacia in adults. In some cases, secondary hyperparathyroidism can cause disturbance in mineralisation of calcium and phosphate. Another condition is a disturbance in primitive transformed cells of mesenchymal origin which exhibit osteoblastic differentiation and produce malignant osteoid. This results in the formation of a malignant primary bone tumor known as osteosarcoma or osteogenic sarcoma. This malignancy most often develops in adolescence during periods of rapid osteoid formation (commonly referred"
"Neonatal hypocalcemia Neonatal hypocalcemia is an abnormal clinical and laboratory hypocalcemia condition that is frequently observed in infants.[1] Healthy term infants go through a physiological nadir of serum calcium levels at 7.5 - 8.5 mg/dL by day 2 of life. Hypocalcemia is a low blood calcium level. A total serum calcium of less than 8 mg/dL (2mmol/L) or ionized calcium less than 1.2 mmol/L in term neonates is defined as hypocalcemia. In preterm infants, it is defined as less than 7mg/dL (1.75 mmol/L) total serum calcium or less than 4mg/dL (1 mmol/L) ionized calcium. [2] Both early onset hypocalcemia (presents"
"within 72h of birth) and late onset hypocalcemia (presents in 3-7 days after birth) require calcium supplementation treatment. Risk factors of early neonatal hypocalcemia Risk factors of late neonatal hypocalcemia Neonatal hypocalcemia Neonatal hypocalcemia is an abnormal clinical and laboratory hypocalcemia condition that is frequently observed in infants.[1] Healthy term infants go through a physiological nadir of serum calcium levels at 7.5 - 8.5 mg/dL by day 2 of life. Hypocalcemia is a low blood calcium level. A total serum calcium of less than 8 mg/dL (2mmol/L) or ionized calcium less than 1.2 mmol/L in term neonates is defined as"
"flaw in a developing child as it results in a failure to thrive and can potentially inhibit body development and cognitive functioning, due to cortical and muscular-skeletal atrophy. Diabetes can be controlled by lifestyle changes such as increased exercise as well blood glucose level monitoring. However, no definitive cure exists. Calcium is a nutrient that can be gained through the consumption of primarily milk and cheeses, however, can also be derived from fish, as well as vegetables from the brassica family. Children between the ages 4–8 should be consuming 1,000 mg/day of calcium to ensure adequate bone health. Calcium’s most"
"Generalized arterial calcification of infancy Generalized Arterial Calcification of Infancy (GACI) also known as Idiopathic Infantile Arterial Calcification (IIAC) Arterial Calcification of Infancy, , Idiopathic Arterial Calcification of Infancy (IACI), Occlusive Infantile Arterial Calcification, Occlusive Infantile Arteriopathy is an extremely rare, usually fatal genetic disorder, caused by mutations in the ENPP1 gene in 75% of the subjects. The condition affects infants during the first 6 months of life. This condition is inherited as an autosomal recessive pattern. It is characterized by generalised calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the"
"of every 25,000 children. Chondrodystrophy and achondroplasia are the most common forms of genetic hyaline disorders. Hyaline cartilage caps the long bones and the spinal vertebrae. Most childhood limb growth takes place at the ends of the long bones, not in the shaft. Normally, as a child grows, the most interior portion of the joint cartilage converts into bone, and new cartilage forms on the surface to maintain smooth joints. The old joint margins (edges) reabsorb, so that the overall shape of the joint is maintained as growth continues. Failure of this process throughout the body results in skeletal dysplasia."
"As a result of these serious health problems, infants are usually premature and stillborn or die shortly after birth from respiratory failure. Some infants have lived for a time, however, with intensive medical support. Babies who live past the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related disorder on the spectrum of abnormal bone growth. ""This article incorporates public domain text from The U.S. National Library of Medicine"" Hypochondrogenesis Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth. The condition is characterized by a short body and limbs and abnormal bone formation in the"
"in osteoid maturation time. Osteomalacia Osteomalacia is the softening of the bones caused by impaired bone metabolism primarily due to inadequate levels of available phosphate, calcium, and vitamin D, or because of resorption of calcium. The impairment of bone metabolism causes inadequate bone mineralization. Osteomalacia in children is known as rickets, and because of this, use of the term ""osteomalacia"" is often restricted to the milder, adult form of the disease. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones. In addition to low systemic levels of circulating mineral ions necessary for bone and"
"Fanconi anemia Fanconi anaemia (FA) is a rare genetic disease resulting in impaired response to DNA damage. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of normal bone marrow function and development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia, and 90% develop bone marrow failure (the inability to produce blood cells) by age 40. About 60–75% of people have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around"
"Hypophosphatasia Hypophosphatasia (also called deficiency of alkaline phosphatase or phosphoethanolaminuria) is a rare, and sometimes fatal, metabolic bone disease. Clinical symptoms are heterogeneous, ranging from the rapidly fatal, perinatal variant, with profound skeletal hypomineralization and respiratory compromise, to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or osteomalacia. The pathognomonic finding is subnormal serum activity of the TNSALP enzyme, which is caused by one of 200 genetic mutations identified to date, in the gene encoding TNSALP. Genetic inheritance is autosomal recessive for the perinatal and"
"most common causes are vitamin D deficiency (caused by lack of sunlight, diet or malabsorption) and chronic kidney failure. Lack of vitamin D leads to reduced calcium absorption by the intestine leading to hypocalcemia and increased parathyroid hormone secretion. This increases bone resorption. In chronic kidney failure the problem is more specifically failure to convert vitamin D to its active form in the kidney. The bone disease in secondary hyperparathyroidism caused by kidney failure is termed renal osteodystrophy. Tertiary hyperparathyroidism is seen in patients with long-term secondary hyperparathyroidism, which eventually leads to hyperplasia of the parathyroid glands and a loss"
"in the number of rickets cases. Also, in the United States and Canada, vitamin D-fortified milk, infant vitamin supplements, and vitamin supplements have helped to eradicate the majority of cases of rickets for children with fat malabsorption conditions. Osteomalacia is a disease in adults that results from vitamin D deficiency. Characteristics of this disease are softening of the bones, leading to bending of the spine, bowing of the legs, proximal muscle weakness, bone fragility, and increased risk for fractures. Osteomalacia reduces calcium absorption and increases calcium loss from bone, which increases the risk for bone fractures. Osteomalacia is usually present"
"and c) dysmorphism. Typically, children with this syndrome are born low-birth-weight due to intrauterine growth retardation. At birth, there is dysmorphism, which is later typified into the features described below. The child is stunted, often with demonstrable growth hormone deficiency and has moderate to severe intellectual disability, mainly as a consequence of repeated seizures brought on by the low blood ionic calcium levels. The immuno-reactive parathormone levels are low to undetectable, with low calcium and high phosphate levels in the blood. ""Dysmorphism"" is most evident on the face, with the following features: Other features include: In another study of six"
"Tumoral calcinosis Tumoral calcinosis is a rare condition in which there is calcium deposition in the soft tissue in periarticular location i.e. around joints. The accumulations are outside the joint capsule. They are frequently seen in patients undergoing renal dialysis. It is also considered by some to have a hereditary predisposition. The name indicates calcinosis (calcium deposition) which resembles tumor (like a new growth). They are not true neoplasms - they don't have dividing cells. They are just deposition of inorganic calcium with serum exudate. Children and adolescents (6 to 25 years) are the most commonly affected. The symptom that"
"Tumoral calcinosis Tumoral calcinosis is a rare condition in which there is calcium deposition in the soft tissue in periarticular location i.e. around joints. The accumulations are outside the joint capsule. They are frequently seen in patients undergoing renal dialysis. It is also considered by some to have a hereditary predisposition. The name indicates calcinosis (calcium deposition) which resembles tumor (like a new growth). They are not true neoplasms - they don't have dividing cells. They are just deposition of inorganic calcium with serum exudate. Children and adolescents (6 to 25 years) are the most commonly affected. The symptom that"
"phosphorus deficiency, as well as a lack of vitamin D; today, it is largely found in low-income countries in Africa, Asia, or the Middle East and in those with genetic disorders such as pseudovitamin D deficiency rickets. Maternal vitamin D deficiency may cause overt bone disease from before birth and impairment of bone quality after birth. Nutritional rickets exists in countries with intense year-round sunlight such as Nigeria and can occur without vitamin D deficiency. Although rickets and osteomalacia are now rare in Britain, outbreaks have happened in some immigrant communities in which osteomalacia sufferers included women with seemingly adequate"
"enzyme is matrix mineralization. However, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to a disorder known as hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation, since this determines age of onset and severity of symptoms. The severity of symptoms ranges from premature loss of deciduous teeth with no bone abnormalities to stillbirth depending upon which amino acid is changed in the ALPL gene. Mutations in the ALPL gene lead to varying"
"into adult life if not treated. Long-term consequences include permanent curvatures or disfiguration of the long bones, and a curved back. Maternal deficiencies may be the cause of overt bone disease from before birth and impairment of bone quality after birth. The primary cause of congenital rickets is vitamin D deficiency in the mother's blood, which the baby shares. Vitamin D ensures that serum phosphate and calcium levels are sufficient to facilitate the mineralization of bone. Congenital rickets may also be caused by other maternal diseases, including severe osteomalacia, untreated celiac disease, malabsorption, pre-eclampsia, and premature birth. Rickets in children"
"Hypomagnesemia with secondary hypocalcemia Hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive genetic disorder affecting intestinal magnesium absorption. Decreased intestinal magnesium reabsorption and the resulting decrease in serum magnesium levels is believed to cause lowered parathyroid hormone (PTH) output by the parathyroid gland. This results in decreased PTH and decreased serum calcium levels (hypocalcemia). This manifests in convulsions and spasms in early infancy which, if left untreated, can lead to mental retardation or death. HSH is caused by mutations in the TRPM6 gene. Diagnosis typically occurs during the first 6 months of life due to characteristic neurological symptoms. These"
"Osteomalacia Osteomalacia is the softening of the bones caused by impaired bone metabolism primarily due to inadequate levels of available phosphate, calcium, and vitamin D, or because of resorption of calcium. The impairment of bone metabolism causes inadequate bone mineralization. Osteomalacia in children is known as rickets, and because of this, use of the term ""osteomalacia"" is often restricted to the milder, adult form of the disease. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones. In addition to low systemic levels of circulating mineral ions necessary for bone and tooth mineralization, accumulation of"
"Salla disease Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal recessive lysosomal storage disease characterized by early physical impairment and intellectual disability. It was first described in 1979, after Salla, a municipality in Finnish Lapland. Salla disease is one of 40 Finnish heritage diseases and affects approximately 130 individuals, mainly from Finland and Sweden. Individuals with Salla disease may present with nystagmus in the first months of life as well as hypotonia, reduced muscle tone and strength, and cognitive impairment. The most severely impaired children do not walk or acquire language, but"
"options. A calcium-deficient diet has been beneficial for some affected people. Treatment is necessary for the infantile form: Bone marrow transplantation (BMT) improves some cases of severe, infantile osteopetrosis associated with bone marrow failure, and offers the best chance of longer-term survival for individuals with this type. In pediatric (childhood) osteopetrosis, surgery is sometimes needed because of fractures. Adult osteopetrosis typically does not require treatment, but complications of the condition may require intervention. Surgery may be needed for aesthetic or functional reasons (such as multiple fractures, deformity, and loss of function), or for severe degenerative joint disease. The long-term-outlook for"
"children with ear defects are often checked for kidney defects at birth. ""20% to 40% of children with microtia/anotia will have additional defects that could suggest a syndrome."" Treacher-Collins Syndrome: (TCS) A congenital disorder caused by a defective protein known as treacle, and is characterized by craniofacial deformities; malformed or absent ears are also seen in this syndrome. The effects may be mild, undiagnosed to severe, leading to death. Because the ear defects are much different in this disorder and not only affect the outer ear, but the middle ear as well, reconstructive surgery may not help with the child's"
"infection, metastasis, fractures and the effects of endocrine bone disorders. Defects in the development and continued division of epiphyseal plates can lead to growth disorders. The most common defect is achondroplasia, where there is a defect in cartilage formation. Achondroplasia is the most common cause of dwarfism. Salter–Harris fractures are fractures involving epiphyseal plates and hence tend to interfere with growth, height or physiologic functions. Osgood-Schlatter disease results from stress on the epiphyseal plate in the tibia, leading to excess bone growth and a painful lump at the knee. John Hunter studied growing chickens. He observed bones grew at the"
"even the most severe forms of osteogenesis imperfecta and congenital dwarfism. Some stillborn skeletons show almost no mineralization; others have marked undermineralization and severe osteomalacia. Occasionally, there can be a complete absence of ossification in one or more vertebrae. In the skull, individual bones may calcify only at their centers. Another unusual radiographic feature is bony spurs that protrude laterally from the shafts of the ulnae and fibulae. Despite the considerable patient-to-patient variability and the diversity of radiographic findings, the X-ray can be considered diagnostic. Infantile hypophosphatasia presents in the first 6 months of life, with the onset of poor"
"Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones (epiphyses), and that it is present from birth (congenital). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI. People with"
"220 million births, with fewer than 20 recorded cases. CDD is a bone disorder that causes calcium to build up in the skull. Based on the small number of recorded cases, doctors predicted that the pressure from the calcium deposits in his skull would distort his face, destroy his eyesight and hearing, and eventually affect his brain, with death before his seventeenth birthday. Despite his eyesight limitations, hearing problems, and the painful headaches he endured, Dennis was eventually able to do a number of things his doctors felt he would be unable to do. Dennis learned to read even though"
"Infantile neuronal ceroid lipofuscinosis Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease or Hagberg-Santavuori disease or Santavuori-Haltia disease or Infantile Finnish type neuronal ceroid lipofuscinosis or Balkan disease is a form of NCL and inherited as a recessive autosomal genetic trait. The disorder is progressive, degenerative and fatal, extremely rare worldwide – with approximately 60 official cases reported by 1982, perhaps 100 sufferers in total today – but relatively common in Finland due to the local founder effect. The development of children born with INCL is normal for the first 8–18 months, but will then flounder and start to regress"
"before starting the neurological assessment, to exclude the dysplasia. COL91A mutation was discovered in 2001. Multiple epiphyseal dysplasia Fairbank's disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends. As it expands outward from the growth plate, the cartilage mineralizes and hardens to become bone (ossification). In MED, this process is defective. Children with autosomal dominant MED experience joint pain and fatigue after exercising. Their x-rays show small and"
"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"