CretinismCretinism is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones (congenital hypothyroidism) usually due to maternal hypothyroidism.Etymology and use of cretinThe term cretin is a medical term which describes a person so affected with the condition, but, as with words such as spastic and lunatic, it can also have a vulgar connotation and can be used disparagingly. Cretin became a medical term in the 18th century, from an Alpine French dialect; it saw wide medical use in the 19th and early 20th centuries, and then spread more widely in popular English as a markedly derogatory term for a person who behaves stupidly. Because of its pejorative connotations in popular speech, health-care workers have mostly abandoned cretin.[citation needed]

Other speculative etymologies have been offered: From creta, Latin for chalk, because of the pallor of those affected. From "Crete", where iodine insufficiency (Hypothyroidism) was common prior to the modern era.

[1] From cretira, Grisson-Romance creature, from Latin creatus. From cretine, French for alluvium (soil deposited by flowing water), an allusion to the affliction's

suspected origin in inadequate soil.[1]

From "chretien," French for "Christian" or "Christlike," because those affected were so mentally handicapped that they were considered incapable of sinning [2]

Sporadic cretinism due to congenital hypothyroidismCongenital hypothyroidism can be endemic, genetic, or sporadic. If untreated, it results in mild to severe impairment of both physical and mental growth and development.Poor length growth is apparent as early as the first year of life. Adult stature without treatment ranges from 1 to 1.6 metres (3'4 to 5'3), depending on severity, sex and other genetic factors. Bone maturation and puberty are severely delayed. Ovulation is impeded and infertility is common.

DwarfismDwarfism is a condition of short stature. It is defined by the advocacy group Little People of America (LPA) as an adult height of 4 feet 10 inches or under, as a result of a medical or genetic condition. Although other groups may extend the criteria for certain forms of dwarfism to 5 feet, the average height of an adult with dwarfism is 4 feet. There are two main categories of dwarfism -- disproportionate and proportionate. Disproportionate dwarfism is characterized by an average-size torso and shorter arms and legs or a shortened trunk with longer limbs. In proportionate dwarfism, the body parts are in proportion but shortened. Dwarfism CausesDwarfism can be caused by any of more than 200 conditions. Causes of proportionate dwarfism include metabolic and hormonal disorders such as growth hormone deficiency.The most common types of dwarfism, known as skeletal dysplasias, are genetic. Skeletal dysplasias are conditions of abnormal bone growth that cause disproportionate dwarfism.  They include:Achondroplasia. The most common form of dwarfism, achondroplasia occurs in about one out of 26,000 to 40,000 babies and is evident at birth. People with achondroplasia have a relatively long trunk and shortened upper parts of their arms and legs. Other features of achondroplasia include:

a large head with a prominent forehead a flattened bridge of the nose protruding jaw crowded and misaligned teeth forward curvature of the lower spine bowed legs flat, short, broad feet "double-jointedness" 

Spondyloepiphyseal dysplasias (SED). A less common form of dwarfism, SED affects approximately one in 95,000 babies. Spondyloepiphyseal dysplasia refers to a group of conditions characterized by a shortened trunk, which may not become apparent until a child is between 5 and 10 years old. Other features can include:

club feet cleft palate severe osteoarthritis in the hips weak hands and feet barrel-chested appearance

Diastrophic dysplasia. A rare form of dwarfism, diastrophic dysplasia occurs in about one in 100,000 births. People who have it tend to have shortened forearms and calves (this is known as mesomelic shortening).Other signs can include

deformed hands and feet limited range of motion cleft palate ears with a cauliflower appearance   

Dwarfism GeneticsSkeletal dysplasia is caused by a genetic mutation. The gene mutation can occur spontaneously or can be inherited.Diastrophic dysplasia and usually spondyloepiphyseal dysplasias are inherited in a recessive manner. This means a child must receive two copies of the mutated gene -- one from the mother, one from the father -- to be affected.  Achondroplasia, on the other hand, is inherited in a dominant manner. That means a child needs only one copy of the mutated gene to have that form of skeletal dysplasia. There is a 25% chance that a child born to a couple in which both members have achondroplasia will be of normal height. But there is also a 25% chance the child will inherit both dwarfism genes, a condition known as double-dominant syndrome. This is a fatal condition that usually results in miscarriage.Often parents of children with achondroplasia do not carry the mutated gene themselves. The mutation in the child occurs spontaneously at the time of conception.Doctors do not know what causes a gene to mutate. It is a seemingly random occurrence that can happen in any pregnancy. When average-size parents have a child with dwarfism due to a spontaneous mutation, it is not likely that other children will also have the mutation. In addition to genetic skeletal dysplasia, short stature has other causes, including disorders of the pituitary, which influence growth and metabolism; kidney disease; and problems that affect the body's ability to absorb nutrients. Dwarfism DiagnosisSome forms of dwarfism are evident at birth or during infancy and can be diagnosed through X-rays and a physical exam. A diagnosis of achondroplasia, diastrophic dysplasia, or spondyloepiphyseal dysplasia can be confirmed through genetic testing. In some cases, prenatal testing is done if there is concern for specific conditions.Sometimes dwarfism doesn't become evident until later in a child's life, when dwarfism signs lead parents to seek a diagnosis. Here are signs and symptoms to look for in children that indicate a potential for dwarfism:

late development of certain motor skills, such as sitting up or walking increased susceptibility to ear infections breathing problems weight problems curvature of the spine bowed legs joint stiffness and arthritis

lower back pain or numbness in the legs crowding of teeth

 Dwarfism TreatmentsEarly diagnosis and treatment can help prevent or lessen some of the problems associated with dwarfism. People with dwarfism related to growth hormone deficiency can be treated with growth hormone. In many cases, people with dwarfism have orthopaedic or medical complications. Treatment of those can include:

Insertion of a shunt to drain excess fluid and relieve pressure on the brain. A tracheotomy to improve breathing through small airways. Corrective surgeries for deformities such as cleft palate, club foot, or bowed legs. Surgery to remove tonsils or adenoids to improve breathing problems related to large tonsils,

small facial structures, and/or a small chest. Surgery to widen the spinal canal (the opening through which the spinal cord passes) to relieve

spinal cord compression.Other treatment may include:

Physical therapy to strengthen muscles and increase joint range of motion. Back braces to improve curvature of the spine. Placement of draining tubes in the middle ear to help prevent hearing loss due to repeated ear

infections. Orthodontic treatment to relieve crowding of teeth caused by a small jaw. Nutritional guidance and exercise to help prevent obesity, which can aggravate skeletal problems.

GigantismGigantism is abnormal growth due to an excess of growth hormone during childhood.CausesThe most common cause of too much growth hormone release is a noncancerous (benign) tumor of the pituitary gland. Other causes include:

Carney complex McCune-Albright syndrome (MAS) Multiple endocrine neoplasia type 1 (MEN-1) Neurofibromatosis

If excess growth hormone occurs after normal bone growth has stopped, the condition is known as acromegaly.Gigantism is very rare.SymptomsThe child will grow in height, as well as in the muscles and organs. This excessive growth makes the child extremely large for his or her age.Other symptoms include:

Delayed puberty Double vision or difficulty with side (peripheral) vision Frontal bossing and a prominent jaw Gaps between the teeth Headache Increased sweating Irregular periods (menstruation) Large hands and feet with thick fingers and toes Release of breast milk Sleep problems Thickening of the facial features

Weakness Exams and TestsThe doctor will perform a physical exam and ask about the child's symptoms.Laboratory tests that may be ordered include:

Cortisol Estradiol (girls) Growth hormone suppression test Prolactin Increased growth factor-I Testosterone (boys) Thyroid hormone

Imaging tests, such as CT or MRI scan of the head, also may be ordered to check for a pituitary tumor. TreatmentFor pituitary tumors with well-defined borders, surgery can cure many cases.When surgery cannot completely remove the tumor, medicines are used to block or reduce growth hormone release.Outlook (Prognosis)Pituitary surgery is usually successful in limiting growth hormone production.Early treatment can reverse many of the changes caused by growth hormone excess.Possible ComplicationsSurgery may lead to low levels of other pituitary hormones, which can cause:

Adrenal insufficiency Diabetes insipidus (rarely) Hypogonadism Hypothyroidism

When to Contact a Medical ProfessionalCall your health care provider if your child has signs of excessive growth.Alternative NamesGiantism; Pituitary giant

OsteomalaciaOsteomalacia is softening of the bones due to a lack of vitamin D or a problem with the body's ability to break down and use this vitamin.CausesThe softer bones in osteomalacia have a normal amount of collagen, which gives the bones its structure. However, they lack the proper amount of calcium.There are many causes of osteomalacia. In children, the condition is called rickets and is usually caused by low levels of vitamin D.Other conditions that may lead to osteomalacia include:

Not enough vitamin D in the diet Not enough exposure to sunlight, which produces vitamin D in the body Malabsorption of vitamin D by the intestines

Factors that reduce formation of vitamin D in the body include: Having very little exposure to sunlight Shorter days of sunlight Smog Using very strong sunscreen

The elderly and people who do not drink milk are at increased risk for osteomalacia.Other conditions that may cause osteomalacia include:

Cancer Disorders of vitamin D metabolism

Kidney failure and acidosis Lack of enough phosphates in the diet Liver disease Side effects of medications used to treat seizures

Symptoms Bone fractures that happen without a real injury Muscle weakness Widespread bone pain, especially in the hips

Symptoms may also occur due to low calcium levels. These include: Numbness around the mouth Numbness of the arms and legs Spasms of the hands or feet

Exams and Tests Blood tests will be done to check vitamin D, creatinine, calcium, and phosphate levels. Bone biopsy will show bone softening. Bone x-rays and a bone density test can help detect pseudofractures, bone loss, and bone

softening.Other tests may be done to find out if a kidney problem or other disorder is causing the problem. These tests include:

ALP (alkaline phosphatase) isoenzyme PTH

TreatmentTreatment may involve vitamin D, calcium, and phosphorus supplements taken by mouth. People who cannot properly absorb nutrients through the intestines may need larger doses of vitamin D and calcium. People with certain conditions may need regular blood tests to monitor blood levels of phosphorus and calcium.Outlook (Prognosis)Some people with vitamin deficiency disorders will see improvement within a few weeks. You should heal completely with treatment in about 6 months.Possible ComplicationsSymptoms can return.When to Contact a Medical ProfessionalCall for an appointment with your health care provider if you have symptoms of osteomalacia, or if you think that you may be at risk for this disorder.PreventionEating a diet rich in vitamin D and getting plenty of sunlight can help prevent osteomalacia due to a vitamin D deficiency.

Osteoporosis Osteoporosis causes bones to become weak and brittle — so brittle that a fall or even mild stresses like bending over or coughing can cause a fracture. Osteoporosis-related fractures most commonly occur in the hip, wrist or spine. Bone is living tissue, which is constantly being absorbed and replaced. Osteoporosis occurs when the creation of new bone doesn't keep up with the removal of old bone. Osteoporosis affects men and women of all races. But white and Asian women — especially those who are past menopause — are at highest risk. Medications, healthy diet and weight-bearing exercise can help prevent bone loss or strengthen already weak bones. Causesbones are in a constant state of renewal — new bone is made and old bone is broken down. When you're young, your body makes new bone faster than it breaks down old bone and your bone mass increases.

Most people reach their peak bone mass by their early 20s. As people age, bone mass is lost faster than it's created. How likely you are to develop osteoporosis depends partly on how much bone mass you attained in your youth. The higher your peak bone mass, the more bone you have "in the bank" and the less likely you are to develop osteoporosis as you age. RiskfactorsA number of factors can increase the likelihood that you'll develop osteoporosis — including your age, race, lifestyle choices, and medical conditions and treatments. Unchangeable risksSome risk factors for osteoporosis are out of your control, including:

Your sex. Women are much more likely to develop osteoporosis than are men. Age. The older you get, the greater your risk of osteoporosis. Race. You're at greatest risk of osteoporosis if you're white or of Asian descent. Family history. Having a parent or sibling with osteoporosis puts you at greater risk, especially if

you also have a family history of hip fractures. Frame size. Men and women who have small body frames tend to have a higher risk because they

may have less bone mass to draw from as they age.Hormone levelsOsteoporosis is more common in people who have too much or too little of certain hormones in their bodies. Examples include:

Sex hormones. The reduction of estrogen levels at menopause is one of the strongest risk factors for developing osteoporosis. Women may also experience a drop in estrogen during certain cancer treatments. Men experience a gradual reduction in testosterone levels as they age. And some treatments for prostate cancer reduce testosterone levels in men. Lowered sex hormone levels tend to weaken bone.

Thyroid problems. Too much thyroid hormone can cause bone loss. This can occur if your thyroid is overactive or if you take too much thyroid hormone medication to treat an underactive thyroid.

Other glands. Osteoporosis has also been associated with overactive parathyroid and adrenal glands.

Dietary factorsOsteoporosis is more likely to occur in people who have:

Low calcium intake. A lifelong lack of calcium plays a major role in the development of osteoporosis. Low calcium intake contributes to diminished bone density, early bone loss and an increased risk of fractures.

Eating disorders. People who have anorexia are at higher risk of osteoporosis. Low food intake can reduce the amount of calcium ingested. In women, anorexia can stop menstruation, which also weakens bone.

Gastrointestinal surgery. A reduction in the size of your stomach or a bypass or removal of part of the intestine limits the amount of surface area available to absorb nutrients, including calcium.

Steroids and other medicationsLong-term use of corticosteroid medications, such as prednisone and cortisone, interferes with the bone-rebuilding process. Osteoporosis has also been associated with medications used to combat or prevent:

Seizures Depression Gastric reflux Cancer Transplant rejection

Lifestyle choicesSome bad habits can increase your risk of osteoporosis. Examples include:

Sedentary lifestyle. People who spend a lot of time sitting have a higher risk of osteoporosis than do their more-active counterparts. Any weight-bearing exercise is beneficial for your bones, but walking, running, jumping, dancing and weightlifting seem particularly helpful for creating healthy bones.

Excessive alcohol consumption. Regular consumption of more than two alcoholic drinks a day increases your risk of osteoporosis, possibly because alcohol can interfere with the body's ability to absorb calcium.

Tobacco use. The exact role tobacco plays in osteoporosis isn't clearly understood, but researchers do know that tobacco use contributes to weak bones.

SymptomsThere typically are no symptoms in the early stages of bone loss. But once bones have been weakened by osteoporosis, you may have signs and symptoms that include:

Back pain, caused by a fractured or collapsed vertebra Loss of height over time A stooped posture A bone fracture that occurs much more easily than expected

ComplicationsBone fractures, particularly in the spine or hip, are the most serious complication of osteoporosis. Hip fractures often result from a fall and can result in disability and even death from postoperative complications, especially in older adults. In some cases, spinal fractures can occur even if you haven't fallen. The bones that make up your spine (vertebrae) can weaken to the point that they may crumple, which can result in back pain, lost height and a hunched forward posture. Diagnosisbone density can be measured by a machine that uses low levels of X-rays to determine the proportion of mineral contained in your bones. During this painless test, you lie on a padded table as a scanner passes over your body. In most cases, only a few bones are checked — usually in the hip, wrist and spine.For both men and women, the most widely prescribed osteoporosis medications are bisphosphonates. Examples include:

Alendronate (Fosamax, Binosto) Risedronate (Actonel, Atelvia) Ibandronate (Boniva) Zoledronic acid (Reclast, Zometa)

Side effects include nausea, abdominal pain, difficulty swallowing, and the risk of an inflamed esophagus or esophageal ulcers. These are less likely to occur if the medicine is taken properly. Injected forms of bisphosphonates don't cause stomach upset. And it may be easier to schedule a quarterly or yearly injection than to remember to take a weekly or monthly pill, but it can be more costly to do so. Long-term bisphosphonate therapy has been linked to a rare problem in which the middle of the thighbone cracks and might even break completely. Bisphosphonates also have the potential to affect the jawbone. Osteonecrosis of the jaw is a rare condition mostly occurring after a tooth extraction in which a section of jawbone dies and deteriorates. You should have a recent dental examination before starting bisphosphonates. Hormone-related therapyEstrogen, especially when started soon after menopause, can help maintain bone density. However, estrogen therapy can increase a woman's risk of blood clots, endometrial cancer, breast cancer and possibly heart disease. Raloxifene (Evista) mimics estrogen's beneficial effects on bone density in postmenopausal women, without some of the risks associated with estrogen. Taking this drug may also reduce the risk of some types of breast cancer. Hot flashes are a common side effect. Raloxifene also may increase your risk of blood clots.

In men, osteoporosis may be linked with a gradual age-related decline in testosterone levels. Testosterone replacement therapy can help increase bone density, but osteoporosis medications are better studied in men with osteoporosis and are recommended instead of or in addition to testosterone. Less common osteoporosis medicationsIf you can't tolerate the more common treatments for osteoporosis — or if they don't work well enough — your doctor might suggest trying:

Teriparatide (Forteo). This powerful drug is similar to parathyroid hormone and stimulates new bone growth. It's given by injection under the skin. After two years of treatment with teriparatide, another osteoporosis drug is taken to maintain the new bone growth.

Denosumab (Prolia). Compared with bisphosphonates, denosumab produces similar or better bone density results while targeting a different step in the bone remodeling process. Denosumab is delivered via a shot under the skin every six months. The most common side effects are back and muscle pain.

Life styles & home remediesThese suggestions may help reduce your risk of developing osteoporosis or experiencing broken bones:

Don't smoke. Smoking increases bone loss, perhaps by decreasing the amount of estrogen a woman's body makes and by reducing the absorption of calcium in your intestine.

Avoid excessive alcohol. Consuming more than one alcoholic drink a day may decrease bone formation and reduce your body's ability to absorb calcium. Being under the influence also can increase your risk of falling.

Prevent falls. Wear low-heeled shoes with nonslip soles and check your house for electrical cords, area rugs and slippery surfaces that might cause you to trip or fall. Keep rooms brightly lit, install grab bars just inside and outside your shower door, and make sure you can get in and out of your bed easily.

PreventionThree factors essential for keeping your bones healthy throughout your life are:

Adequate amounts of calcium Adequate amounts of vitamin D Regular exercise

CalciumMen and women between the ages of 18 and 50 need 1,000 milligrams of calcium a day. This daily amount increases to 1,200 milligrams when women turn 50 and men turn 70. Good sources of calcium include:

Low-fat dairy products Dark green leafy vegetables Canned salmon or sardines with bones Soy products, such as tofu Calcium-fortified cereals and orange juice

If you find it difficult to get enough calcium from your diet, consider taking calcium supplements. But too much calcium has been linked to heart problems and kidney stones. The Institute of Medicine recommends that total calcium intake, from supplements and diet combined, should be no more than 2,000 milligrams daily for people older than 50. Vitamin DVitamin D is necessary for your body to absorb calcium. Many people get adequate amounts of vitamin D from sunlight, but this may not be a good source if you live in high latitudes, if you're housebound, or if you regularly use sunscreen or you avoid the sun entirely because of the risk of skin cancer. Scientists don't yet know the optimal daily dose of vitamin D. A good starting point for adults is 600 to 800 international units (IU) a day, through food or supplements. If your blood levels of vitamin D are low, your doctor may suggest higher doses. Teens and adults can safely take up to 4,000 international units (IU) a day.

ExerciseExercise can help you build strong bones and slow bone loss. Exercise will benefit your bones no matter when you start, but you'll gain the most benefits if you start exercising regularly when you're young and continue to exercise throughout your life. Combine strength training exercises with weight-bearing exercises. Strength training helps strengthen muscles and bones in your arms and upper spine, and weight-bearing exercises — such as walking, jogging, running, stair climbing, skipping rope, skiing and impact-producing sports — mainly affect the bones in your legs, hips and lower spine. Swimming, cycling and exercising on machines such as elliptical trainers can provide a good cardiovascular workout, but because such exercises are low impact, they're not as helpful for improving bone health as weight-bearing exercises are.

RicketsRickets is a disorder caused by a lack of vitamin D, calcium, or phosphate. It leads to softening and weakening of the bones.CausesVitamin D helps the body control calcium and phosphate levels. If the blood levels of these minerals become too low, the body may produce hormones that cause calcium and phosphate to be released from the bones. This leads to weak and soft bones.Vitamin D is absorbed from food or produced by the skin when exposed to sunlight. Lack of vitamin D production by the skin may occur in people who:

Live in climates with little exposure to sunlight Must stay indoors Work indoors during the daylight hours

You may not get enough vitamin D from your diet if you: Are lactose intolerant (have trouble digesting milk products) Do not drink milk products Follow a vegetarian diet

Infants who are breastfed only may develop vitamin D deficiency. Human breast milk does not supply the proper amount of vitamin D. This can be a particular problem for darker-skinned children in winter months (when there are lower levels of sunlight).Not getting enough calcium and phosphorous in your diet can also lead to rickets. Rickets caused by a lack of these minerals in diet is rare in developed countries, because calcium and phosphorous are found in milk and green vegetables.Your genes may increase your risk of rickets. Hereditary rickets is a form of the disease that is passed down through families. It occurs when the kidneys are unable to hold onto the mineral phosphate. Rickets may also be caused by kidney disorders that involve renal tubular acidosis.Disorders that reduce the digestion or absorption of fats will make it more difficult for vitamin D to be absorbed into the body.Occasionally, rickets may occur in children who have disorders of the liver, or who cannot convert vitamin D to its active form.Rickets is rare in the United States. It is most likely to occur in children during periods of rapid growth, when the body needs high levels of calcium and phosphate. Rickets may be seen in children ages 6 - 24 months. It is uncommon in newborns.Symptoms

Bone pain or tendernesso Armso Legso Pelviso Spine

Dental deformities

o Delayed formation of teetho Decreased muscle tone (loss of muscle strength)o Defects in the structure of teeth; holes in the enamelo Increased cavities in the teeth (dental caries)o Progressive weakness

Impaired growth Increased bone fractures Muscle cramps Short stature (adults less than 5 feet tall) Skeletal deformities

o Asymmetrical or odd-shaped skullo Bowlegso Bumps in the ribcage (rachitic rosary)o Breastbone pushed forward (pigeon chest)o Pelvic deformitieso Spine deformities (spine curves abnormally, including scoliosis or kyphosis)

Exams and TestsA physical exam reveals tenderness or pain in the bones, rather than in the joints or muscles.The following tests may help diagnose rickets:

Arterial blood gases Blood tests (serum calcium) Bone biopsy (rarely done) Bone x-rays Serum alkaline phosphatase Serum phosphorus

Other tests and procedures include the following: ALP (alkaline phosphatase) isoenzyme Calcium (ionized) PTH Urine calcium

TreatmentThe goals of treatment are to relieve symptoms and correct the cause of the condition. The cause must be treated to prevent the disease from returning.Replacing calcium, phosphorus, or vitamin D that is lacking will eliminate most symptoms of rickets. Dietary sources of vitamin D include fish, liver, and processed milk. Exposure to moderate amounts of sunlight is encouraged. If rickets is caused by a metabolic problem, a prescription for vitamin D supplements may be needed.Positioning or bracing may be used to reduce or prevent deformities. Some skeletal deformities may require corrective surgery.Outlook (Prognosis)The disorder may be corrected by replacing vitamin D and minerals. Laboratory values and x-rays usually improve after about 1 week, although some cases may require large doses of minerals and vitamin D.If rickets is not corrected while the child is still growing, skeletal deformities and short stature may be permanent. If it is corrected while the child is young, skeletal deformities often improve or disappear with time.Possible Complications

Chronic skeletal pain Skeletal deformities Skeletal fractures, may occur without cause

PreventionYou can prevent rickets by making sure that your child gets enough calcium, phosphorus, and vitamin D in the diet. People who have gastrointestinal or other disorders may need to take supplements. Ask your child's health care provider.Kidney (renal) causes of poor vitamin D absorption should be treated right away. People who have renal disorders should have their calcium and phosphorus levels monitored regularly.Genetic counseling may help people who have a family history of inherited disorders that can cause rickets.Alternative NamesOsteomalacia in children; Vitamin D deficiency; Renal rickets; Hepatic rickets