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Dwarfism is a condition characterized by short stature resulting from genetic or medical factors that affect growth and development. Typically defined as an adult height of 4 feet 10 inches (147 cm) or less, dwarfism can be classified into proportionate and disproportionate forms, depending on how body parts are affected. Understanding the underlying causes is essential for proper diagnosis, treatment, and support.
One of the leading causes of dwarfism is a genetic mutation. The most common form, achondroplasia, results from a mutation in the FGFR3 gene, which regulates bone growth. This mutation causes the bones, particularly the long bones in the arms and legs, to develop abnormally, resulting in disproportionate short stature. Most cases of achondroplasia arise from spontaneous mutations, even if there is no family history of the condition.
Several forms of dwarfism are inherited, including:
-Spondyloepiphyseal Dysplasia (SED): Affects the growth of the spine and long bones.
-Diastrophic Dysplasia: Involves abnormalities in cartilage and bone development, often accompanied by joint deformities.
These inherited disorders usually lead to disproportionate dwarfism, where the size of body parts varies significantly.
Dwarfism can also occur due to hormonal imbalances, particularly growth hormone deficiency (GHD). In this condition, the pituitary gland produces insufficient amounts of growth hormone, leading to proportionate dwarfism, where the body is small but all parts are in proportion. Early diagnosis and hormone therapy can often improve growth outcomes in affected children.
Several chronic health conditions and syndromes may affect physical growth, such as:
-Malnutrition: Persistent lack of nutrients during childhood can stunt growth.
-Kidney and heart disease: These can interfere with overall development.
-Turner Syndrome: A chromosomal disorder affecting females that typically results in short stature, among other symptoms.
Such conditions may contribute to growth issues, even if they are not the primary cause of dwarfism.
In some instances, the exact cause of dwarfism cannot be determined. It may result from a combination of genetic, environmental, and health-related factors. Comprehensive medical assessments are required to determine appropriate care and support.
Disproportionate Dwarfism: Involves uneven growth, typically with shorter limbs or trunk.
Proportionate Dwarfism: Involves uniform small stature with all body parts in proportion.
Understanding the type is crucial for accurate diagnosis and treatment.
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