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Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. [3] It is the most common cause of dwarfism [4] and affects about 1 in 27,500 people. [3] In those with the condition, the arms and legs are short, while the torso is typically of normal length. [3]
Dwarfism is a condition of people and animals marked by unusually small size or short stature. [1] In humans, it is sometimes defined as an adult height of less than 147 centimetres (4 ft 10 in), regardless of sex; the average adult height among people with dwarfism is 120 centimetres (4 ft).
Endocrine disorders are often quite complex, involving a mixed picture of hyposecretion and hypersecretion because of the feedback mechanisms involved in the endocrine system. For example, most forms of hyperthyroidism are associated with an excess of thyroid hormone and a low level of thyroid stimulating hormone .
A more complete list of causes includes: mutations of specific genes (e.g., GHRHR, GH1) congenital diseases such as Prader-Willi syndrome, Turner syndrome, [10] or short-stature homeobox gene deficiency [11] congenital malformations involving the pituitary (e.g., septo-optic dysplasia, posterior pituitary ectopia) chronic kidney disease [12]
Achondroplasia is defined by central nervous system defects as well as the prior physical symptoms. Average height for an adult man or woman diagnosed with achondroplasia is about 120 centimeters (47.2 inches), although technically a maximum of 148 centimeters (58.2 inches) is also considered achondroplastic. [3]
It is often termed Brachmann de Lange syndrome or Bushy syndrome and is also known as Amsterdam dwarfism. Its exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000. Its exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000.
Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene that results in a disproportionately short stature, micromelia [3] and a head that appears large in comparison with the underdeveloped portions of the body.
Achondroplasia is a form of short-limbed dwarfism. This type of dwarfism is caused by the inability of the cartilage of the skeleton to ossify and turn to bone. [ 5 ] Acanthosis nigricans is a skin condition in which areas of the skin is of a dark and velvety discoloration, often seen in the body folds and creases such as the armpits, groin ...