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Category

Growth disorders

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dwarfism
acromegaly
Acromegaly is a disorder that results in excess growth of certain parts of the human body. It is caused by excess growth hormone (GH) after the growth plates have closed. The initial symptom is typically enlargement of the hands and feet. There may also be an enlargement of the forehead, jaw, and nose. Other symptoms may include joint pain, thickened skin, deepening of the voice, headaches, and problems with vision. Complications of the disease may include type 2 diabetes, sleep apnea, and high blood pressure.
Turner syndrome
chromosomal variation where a person is born with a 45X chromosome pattern rather than the typical 46XX
achondroplasia
Achondroplasia is a genetic disorder 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 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 enlarged head with 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 skelet
gigantism
Gigantism ( ; from , plural: ), also known as giantism, is a condition characterized by excessive growth and height significantly above average. Technically, it includes humans with height at least three standard deviations above the mean, i.e., 198 cm (6'6") for men and 183 cm (6'0") for women. This condition is caused by over-production of growth hormone in childhood.
growth hormone deficiency
Human disease
Beckwith-Wiedemann syndrome
syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations
Laron syndrome
congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration
Silver-Russell syndrome
growth disorder
Seckel syndrome
autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability
Brooke Greenberg
American Syndrome X patient (1993–2013)
stunted growth
reduced growth rate in human development
hypochondroplasia
Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.
primordial dwarfism
form of dwarfism that results in a smaller body size in all stages of life
pseudoachondroplasia
Pseudoachondroplasia is an inherited disorder of bone growth. It is a genetic autosomal dominant disorder which is linked to mutations in the COMP gen located on chromosome 19. It is generally not discovered until 2–3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a drop of linear growth in contrast to peers, a waddling gait or arising lower limb deformities.
psychosocial short stature
growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress
Froelich syndrome
hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity
short rib – polydactyly syndrome
Human disease
Hemihypertrophy
thumb|Full-body hemihypertrophy Hemihypertrophy, now more commonly referred to as hemihyperplasia in the medical literature, is a condition in which one side of the body or a part of one side of the body is larger than the other to an extent considered greater than the normal variation. As establishing a set of clinical criteria for diagnosis of hemihyperplasia is difficult, the dictum is often used that the clinician should be able to see the asymmetry "from the end of the bed".
midget
upright=1.2|thumb|Singer's Midgets toured the US from 1910 to 1935 and were "enormously successful".
Jansen's metaphyseal chondrodysplasia
metaphyseal dysplasia that has material basis in mutation in PTH receptor which results in short-limbed dwarfism
Léri–Weill dyschondrosteosis
human disease
Majewski's polydactyly syndrome
Human disease