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Achondroplasia in children is the most common form of dwarfism; it accounts for about 70% of all cases of dwarfism. [1] Achondroplasia falls into the category of “disproportionate dwarfism”. It is linked to a mutation in the fibroblast growth factor receptor-3.
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).
Children with CdLS often have gastrointestinal tract difficulties, particularly gastroesophageal reflux. Vomiting, intermittent poor appetite, constipation, diarrhea or gaseous distention are known to be a regularity in cases where the GI tract problems are acute. Symptoms may range from mild to severe.
Dwarfism, low-birth-weight type with unresponsiveness to growth hormone is a very rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and other anomalies. Only 2 cases have been described in medical literature.
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.
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 ...
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.