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Laron syndrome (LS), also known as growth hormone insensitivity or growth hormone receptor deficiency (GHRD), is an autosomal recessive disorder characterized by a lack of insulin-like growth factor 1 (IGF-1; somatomedin-C) production in response to growth hormone (GH; hGH; somatotropin). [6]
Silver–Russell syndrome, also called Silver–Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell–Silver syndrome, and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism.
There is no treatment at this time to promote bone growth in chondrodystrophy patients. Certain types of growth hormone seem to increase the rate of growth during the first year of life/treatment, but have no substantial effect in adult patients. Only a few surgical centers in the world perform, experimentally, leg and arm lengthening procedures.
Growth begins normally, but children usually stop growing by age 8. By age 10, children often develop a shortened trunk, crouched stance, and restricted joint movement. In more severe cases, children also develop a protruding abdomen and forward-curving spine. Skeletal changes, particularly in the pelvis, are progressive and limit movement.
At the time she based this diagnosis simply on behavioral observations without verification through psychological evaluation, which could have indicated the degree of intellectual disability. Subsequently, de Lange described the malformations of the limbs, “Small, chubby hands and feet, short fingers of both hands and feet, little finger ...
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.
About 80% of cases occur in children of parents without the disease, and result from a new (de novo, or sporadic) mutation, which most commonly originates as a spontaneous change during spermatogenesis. [5] The rest are inherited from a parent with the condition. [3] The risk of a new mutation increases with the age of the father. [4]
Treatment is by growth hormone replacement using synthetic human growth hormone. [1] The frequency of the condition is unclear. [2] Most cases are initially noticed in children. [1] The genetic forms of this disease are estimated to affect about 1 in 7,000 people. [3] Most types occur equally in males and females though males are more often ...