Achondroplasia among ancient populations of mesoamerica and South America: Iconographic and Archaeological Evidence

Achondroplasia among ancient populations of mesoamerica and South America: Iconographic and Archaeological Evidence. Non-profit academic project, developed under the open access initiative 212 ABSTRACT Introduction: Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, genu va-rum, and trident hand. Although the etiology of this disease was reported in 1994, evidence of this disease in ancient populations has been found in populations of ancient Egypt (2500 BC) and it has been documented in ancient American populations. Objective: To analyze the presence of individuals with achondroplasia in the Mayan state society of Mexico and Guatemala, during the Classical (100-950 AC) and Post-Classical (950-1519 AC) periods; likewise, in the hierarchical-chieftain society of Tumaco-la Tolita (300 BC – 600 AC) from the Colombia-Ecuador Pacific coast, and the Moche state society (100-600 AC) from the northern coast of Peru. Materials and methods: Iconographic and clinical-morphological studies of some of the most important artistic representations of individuals of short stature in these three cultures. Conclusion: We present the hypothesis that the individuals with short stature were somehow associated with the political and religious power elite. INTRODUCTION Achondroplasia [MIM: 100800] is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, genu varum, and trident hand. It is an autosomal dominant disorder; most cases are sporadic, the result of a de novo mutation (mutation in the fibro-blast growth factor receptor-3 gene, FGFR3)