Dysmorphology Course
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ACHONDROPLASIA ADULT

"El bufon don Sebastian de Morra" (see related A | B | C | D), 1643 Diego Rodriguez de Silva y Velazquez (1599-1660) El Prado , Madrid, Spain

Sebastian de Morra suffered from the effects of an autosomal dominant mutation causing achondroplasia, a disorder preventing the normal development of bones. The disorder does not affect brain development, and Sebastian was able to serve the Infant Cardenal don Fernado, who died in infancy. Thereafter, Sebastian served Prince Baltasar Carlos, who also engaged another achondroplastic person and asked Velazquez to paint portraits of both. Velazquez also chose an achondroplastic girl as the central figure of the famous "Menina" painting. 

From a clinical perspective, the short bones of the limbs and low bridge of the nose are obvious - hypoplasia of the nasal bone is evident even before birth, not so much the shortness of long bones before the 7th. month of gestation. A partial "phenocopy" or similar "syndrome" is characteristic of dachshunds (please see related image). 

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