A physical examination can usually suffice to diagnose certain types of dwarfism, but genetic testing and diagnostic imaging may be used to determine the exact condition. These types of dwarfism are indirect consequences of the generally unhealthy or malnourished condition of the individual, and not of any specific disease. Social prejudice against extreme shortness may reduce social and marital opportunities. Lavinia Warren , an actress with pituitary dwarfism growth hormone deficiency. Achondroplasia is a mutation in the fibroblast growth factor receptor 3.
Some forms of dwarfism are associated with disordered function of other organs, such as the brain or liver , sometimes severely enough to be more of an impairment than the unusual bone growth. Dwarfism is usually caused by a genetic variant; achondroplasia is caused by a mutation on chromosome 4. Other causes of dwarfism are spondyloepiphyseal dysplasia congenita , diastrophic dysplasia , pseudoachondroplasia , hypochondroplasia , Noonan syndrome , primordial dwarfism , Turner syndrome , osteogenesis imperfecta OI , and hypothyroidism. Variations in individuals are identified by diagnosing and monitoring the underlying disorders. Disorders that cause dwarfism may be classified according to one of hundreds of names, which are usually permutations of the following roots: In achondroplasia one has an average-sized trunk with short limbs and a larger forehead. Achondroplasia is a mutation in the fibroblast growth factor receptor 3. However, those with mild skeletal dysplasias may not be affected by dwarfism. Disorders causing dwarfism are often classified by proportionality. In societies where poor nutrition is widespread, the average height of the population may be reduced below its genetic potential by the lack of proper nutrition. Severe shortness with skeletal distortion also occurs in several of the Mucopolysaccharidoses and other storage disorders. In some cases of untreated hypochondroplasia , males grow up to 5 feet 5 inches. Short stature is clinically defined as a height within the lowest 2. Children with this disorder may grow slowly and puberty may be delayed by several years or indefinitely. It can be caused by mutations of specific genes, damage to the pituitary gland, Turner's syndrome , poor nutrition,  or even stress leading to psychogenic dwarfism. If this hormone is lacking, stunted or even halted growth may become apparent. Skeletal dysplasia is usually suspected because of obvious physical features e. Most children with suspected skeletal dysplasias are referred to a genetics clinic for diagnostic confirmation and genetic counseling. Spinal stenosis , ear infection, and hydrocephalus are common. Disproportionate dwarfism is characterized by shortened limbs or a shortened torso. Short stature is a common replacement of the term 'dwarfism', especially in a medical context. There may not be any complications outside adapting to their size. Diagnosis[ edit ] Dwarfism is often diagnosed in childhood on the basis of visible symptoms. Achondroplasia is an autosomal dominant disorder caused by the presence of a faulty allele in the genome. These types of dwarfism are indirect consequences of the generally unhealthy or malnourished condition of the individual, and not of any specific disease. Since about the year , genetic tests for some of the specific disorders have become available.
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