Rickets

rachitisrachiticantirachiticrickettsrickety
Rickets is a condition that results in weak or soft bones in children.wikipedia
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Vitamin D

DCalciferol1,25 Dihydroxy vitamin D
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.
Its discovery was due to effort to find the dietary substance lacking in children with rickets (the childhood form of osteomalacia).

Genu valgum

knock-kneedknock kneesgenu valgum'' (knock knee)
Young children may have bowed legs and thickened ankles and wrists; older children may have knock knees.
However, the condition may continue or worsen with age, particularly when it is the result of a disease, such as rickets.

Cod liver oil

cod-liver oilfish-liver oilcod liver capsules
Early treatments included the use of cod liver oil.
Historically, it was given to children because vitamin D had been shown to prevent rickets, a consequence of vitamin D deficiency.

Vitamin D deficiency

hypovitaminosis Dvitamin Ddeficiency of vitamin D
The most common cause is vitamin D deficiency.
Deficiency impairs bone mineralization, leading to bone softening diseases such as rickets in children.

Genu varum

bow-leggedbow-leggednessbowlegged
Young children may have bowed legs and thickened ankles and wrists; older children may have knock knees. Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping.
If a child is sickly, either with rickets or any other ailment that prevents ossification of the bones, or is improperly fed, the bowed condition may persist.

Skull bossing

frontal bossingbossingforehead bulges
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.

Hypophosphatasia

Diseases causing soft bones in infants, like hypophosphatasia or hypophosphatemia can also lead to rickets.
Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or osteomalacia.

Craniotabes

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.
Any condition that affects bone growth, most notably rickets (from vitamin D deficiency), marasmus, syphilis, or thalassemia, can cause craniotabes if present during a time of rapid skull growth (most especially during gestation and infancy).

Hypophosphatemia

Hypophosphataemiahyperphosphaturiahypophosphatemia, familial
Diseases causing soft bones in infants, like hypophosphatasia or hypophosphatemia can also lead to rickets. Diagnosis is generally based on blood tests finding a low calcium, low phosphorus, and a high alkaline phosphatase together with X-rays.
Primary hypophosphatemia is the most common cause of non-nutritional rickets.

Preterm birth

Pretermpremature birthpremature
Congenital rickets may also be caused by other maternal diseases, including severe osteomalacia, untreated celiac disease, malabsorption, pre-eclampsia, and premature birth.

Alkaline phosphatase

ALPleukocyte alkaline phosphatasebone-specific alkaline phosphatase
Diagnosis is generally based on blood tests finding a low calcium, low phosphorus, and a high alkaline phosphatase together with X-rays.
Placental alkaline phosphatase is elevated in seminomas and active forms of rickets, as well as in the following diseases and conditions:

Rachitic rosary

A condition known as rachitic rosary can result as the thickening caused by nodules forming on the costochondral joints.
The prominent knobs of bone at the costochondral joints of rickets patients are known as a rachitic rosary or beading of the ribs.

Osteomalacia

rachiticLoosers zonerickets
Congenital rickets may also be caused by other maternal diseases, including severe osteomalacia, untreated celiac disease, malabsorption, pre-eclampsia, and premature birth.
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.

X-linked hypophosphatemia

Hypophosphatemic ricketsX-linked hypophosphatemic ricketsfamilial hypophosphatemia
X-linked hypophosphatemia (XLH), is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of rickets in that vitamin D supplementation does not cure it.

Bone fracture

fracturefracturescompound fracture
Complications may include bone fractures, muscle spasms, an abnormally curved spine, or intellectual disability.

Lordosis

lumbar hyperlordosislordoticlumbar lordosis
Spinal curvatures of kyphoscoliosis or lumbar lordosis may be present.
Rickets, a vitamin D deficiency in children, can cause lumbar hyperlordosis.

Cholecalciferol

vitamin D 3 vitamin D3colecalciferol
Vitamin D 3 (cholecalciferol) is the preferred form since it is more readily absorbed than vitamin D 2.
It is used to treat and prevent vitamin D deficiency and associated diseases, including rickets.

Harrison's groove

The deformity of a pigeon chest may result in the presence of Harrison's groove.
It may also appear in rickets because of defective mineralisation of the bones by calcium necessary to harden them; thus the diaphragm, which is always in tension, pulls the softened bone inward.

Dent's disease

Dent diseaseDent’s diseaseFanconi syndrome, renal, with nephrocalcinosis and renal stones
"Dent's disease" is often used to describe an entire group of familial disorders, including X-linked recessive nephrolithiasis with kidney failure, X-linked recessive hypophosphatemic rickets, and both Japanese and idiopathic low-molecular-weight proteinuria.

Autosomal dominant hypophosphatemic rickets

hypophophatemic rickets
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones (rickets), bone pain, and tooth abscesses.

Edward Mellanby

E. MellanbySir Edward Mellanby
The role of diet in the development of rickets was determined by Edward Mellanby between 1918–1920.
Sir Edward Mellanby (8 April 1884 – 30 January 1955) discovered vitamin D and its role in preventing rickets in 1919.

Fontanelle

fontanelfontanellesfontanels
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.

Calcitriol receptor

vitamin D receptorVDRvitamin D receptors
Mutations in this gene are associated with type II vitamin D-resistant rickets.

X-linked dominant inheritance

X-linked dominantX-linked dominanceX-linked  dominant
A rare X-linked dominant form exists called vitamin D-resistant rickets or X-linked hypophosphatemia.

Dual-energy X-ray absorptiometry

DEXAdual energy X-ray absorptiometrybone densitometry
Some clinics may routinely carry out DXA scans on pediatric patients with conditions such as nutritional rickets, lupus, and Turner syndrome.