Keywords
Dwarfism
Genetics
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Abstract
Objective: To analyze the features of Achondroplasia. Bibliographic Review: Achondroplasia is a rare genetic disease recognized as the most common primary skeletal dysplasia in humans. This form of dysplasia is responsible for more than 90% of cases of disproportionately short stature, also known as dwarfism. Its features include disproportionate short stature, rhizomelic shortening of the limbs, macrocephaly with frontal bossing, hypoplasia of the midface, smaller than average chest, thoracolumbar kyphosis, lumbar lordosis, hypermobile joints, but with limited extension and rotation of the elbow and hip, despite of general hip laxity, tibial bowing and brachydactyly. Final considerations: Achondroplasia affects more than 250,000 individuals worldwide, being related to a recognizable pattern of growth, lifelong medical complications such as obesity, obstructive sleep apnea, spinal stenosis, overweight/obesity, chronic back pain/ legs, hearing impairment and breathing problems. Furthermore, it is associated with related functional and psychosocial challenges. In this sense, although there is no specific treatment for the disease, its monitoring is carried out by a multidisciplinary team with the aim of reducing complications and improving quality of life.
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