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Short Stature
Short stature refers to a height of a human which is below typical. Whether a person is considered short depends on the context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called ''short''. Dwarfism is the condition of being very short, often caused by a medical condition. In a medical context, short stature is typically defined as an adult height that is more than two standard deviations below a population’s mean for age and sex, which corresponds to the shortest 2.3% of individuals in that population. Shortness in children and young adults nearly always results from below-average growth in childhood, while shortness in older adults usually results from loss of height due to kyphosis of the spine or collapsed vertebrae from osteoporosis. The most common causes of short stature in childhood are constitutional growth delay or familial short stature. From a medical perspective, severe shortness can be a ...
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Height Of A Human
Human height or stature is the distance from the bottom of the feet to the top of the head in a human body, standing erect. It is measured using a stadiometer, in centimetres when using the metric system or SI system, or feet and inches when using United States customary units or the imperial system. In the early phase of anthropometric research history, questions about height measuring techniques for measuring nutritional status often concerned genetic differences. Height is also important because it is closely correlated with other health components, such as life expectancy. Studies show that there is a correlation between small stature and a longer life expectancy. Individuals of small stature are also more likely to have lower blood pressure and are less likely to acquire cancer. The University of Hawaii has found that the "longevity gene" FOXO3 that reduces the effects of aging is more commonly found in individuals of small body size. Short stature decreases the risk of Ch ...
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Growth Hormone Deficiency
Growth hormone deficiency (GHD), or hyposomatotropism, is a medical condition resulting from not enough growth hormone (GH). Generally the most noticeable symptom is that an individual attains a short height. Newborns may also present low blood sugar or a small penis size. In adults there may be decreased muscle mass, high cholesterol levels, or poor bone density. GHD can be present at birth or develop later in life. Causes may include genetics, trauma, infections, tumors, or radiation therapy. Genes that may be involved include '' GH1'', '' GHRHR'', or '' BTK''. In a third of cases no cause is apparent. The underlying mechanism generally involves problems with the pituitary gland. Some cases are associated with a lack of other pituitary hormones, in which case it is known as combined pituitary hormone deficiency. Diagnosis involves blood tests to measure growth hormone levels. Treatment is by growth hormone replacement using synthetic human growth hormone. The frequen ...
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Symptom
Signs and symptoms are diagnostic indications of an illness, injury, or condition. Signs are objective and externally observable; symptoms are a person's reported subjective experiences. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showing on a medical scan. A symptom is something out of the ordinary that is experienced by an individual such as feeling feverish, a headache or other pains in the body, which occur as the body's immune system fights off an infection. Signs and symptoms Signs A medical sign is an objective observable indication of a disease, injury, or medical condition that may be detected during a physical examination. These signs may be visible, such as a rash or bruise, or otherwise detectable such as by using a stethoscope or taking blood pressure. Medical signs, along with symptoms, help in forming a diagnosis. Some examples of signs are nail clubbing of either the fingernail ...
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Skeletal Dysplasia
An osteochondrodysplasia,Etymology: . or skeletal dysplasia, is a disorder of the development of bone and cartilage. Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine. Skeletal dysplasia can result in marked functional limitation and even mortality. Osteochondrodysplasias or skeletal dysplasia subtypes can overlap in clinical aspects, therefore plain radiography is absolutely necessary to establish an accurate diagnosis. Magnetic resonance imaging can provide further diagnostic insights and guide treatment strategies especially in cases of spinal involvement. As some disorders that cause skeletal dysplasia have ...
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Achondroplasia
Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the Rhizomelia, arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of for males and for females. Other features can include an Macrocephaly, enlarged head with Skull bossing, prominent forehead (frontal bossing) and underdevelopment of the midface (midface hypoplasia). Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes the extremely rare short-limb skeletal dysplasia with severe combined immunodeficiency. Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (''FGFR3'') gene that results in its protein being Gain-of-function, overactive. Achondroplasia results in impaired endochondral bone growth (bone growth within car ...
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Bone Age
Bone age is the degree of a person's skeletal development. In children, bone age serves as a measure of physiological maturity and aids in the diagnosis of growth abnormalities, endocrine disorders, and other medical conditions. As a person grows from fetal life through childhood, puberty, and finishes growth as a young adult, the bones of the skeleton change in size and shape. These changes can be seen by x-ray and other imaging techniques. A comparison between the appearance of a patient's bones to a standard set of bone images known to be representative of the average bone shape and size for a given age can be used to assign a "bone age" to the patient. Bone age is distinct from an individual's biological or chronological age, which is the amount of time that has elapsed since birth. Discrepancies between bone age and biological age can be seen in people with stunted growth, where bone age may be less than biological age. Similarly, a bone age that is older than a person's chron ...
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Idiopathic Short Stature
Idiopathic short stature (ISS) refers to extreme short stature that does not have a diagnostic explanation (''idiopathic'' designates a condition that is unexplained or not understood) after an ordinary growth evaluation. The term has been in use since at least 1975 without a precise percentile or statistical definition of "extreme". Diagnosis Definition In 2003 Eli Lilly and Company offered a more precise definition of ISS when the pharmaceutical company submitted clinical trial data to the U.S. Food and Drug Administration (FDA) requesting approval to advertise their brand of growth hormone for the treatment of ISS. They proposed a definition of a height more than 2.25 standard deviations below mean, roughly equal to the shortest 1.2% of the population. Other researchers have described a cutoff of 2.0 standard deviations. Treatment There is some evidence that hormone treatment may not result in a significant improvement in psychosocial functioning. It is estimated that ...
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Osteochondrodysplasia
An osteochondrodysplasia,Etymology: . or skeletal dysplasia, is a disorder of the development of bone and cartilage. Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine. Skeletal dysplasia can result in marked functional limitation and even mortality. Osteochondrodysplasias or skeletal dysplasia subtypes can overlap in clinical aspects, therefore plain radiography is absolutely necessary to establish an accurate diagnosis. Magnetic resonance imaging can provide further diagnostic insights and guide treatment strategies especially in cases of spinal involvement. As some disorders that cause skeletal dysplasia have ...
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Prader–Willi Syndrome
Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include hypotonia, weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. Mild to moderate intellectual impairment and Behavioural problems, behavioral problems are also typical of the disorder. Often, affected individuals have a narrow forehead, small hands and feet, short height, and light skin and hair. Most are Infertility, unable to have children. About 74% of cases occur when part of the father's chromosome 15 is deleted. In another 25% of cases, the affected person has Uniparental disomy, two copies of the maternal chromosome 15 from the mother and lacks the paternal copy. As parts of the chromosome from the mother are turned off through Genomic imprinting, imprinting, they end up with no working copies of certain genes. ...
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Small For Gestational Age
Small for gestational age (SGA) newborns are those who are smaller in size than normal for the gestational age. SGA is most commonly defined as a weight below the 10th percentile for the gestational age. SGA predicts susceptibility to hypoglycemia, hypothermia, and polycythemia. By definition, at least 10% of all newborns will be labeled SGA. All SGA babies should be watched for signs of failure to thrive, hypoglycemia, and other health conditions. Causes Being small for gestational age is broadly either: * Being constitutionally small, or caused by a genetic trait of the baby * Intrauterine growth restriction, also called pathological SGA Diagnosis The condition is defined by birth weight and/or length. Intrauterine growth restriction is generally diagnosed by measuring the mother's uterus, with the fundal height being less than it should be for that stage of the pregnancy. If it is suspected, the mother will usually be sent for an ultrasound to confirm. Management Ninety ...
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