Anesthesia recommendations for patients suffering from Achondroplasia - June 2011

Achondroplasia is the most frequent of more than 100 described types of skeletal dysplasia which lead to dwarfism. The incidence is approx. 0.5-1.5 in 10,000 newborns [1]. Spontaneous mutations cause up to 80% of the diseases. Hereditary propagation takes place in terms of autosomal-dominant transmission. Females are more often affected than males [13,19,22]. Genetically speaking, this is the mutation of the fibroblast growth factor receptor 3 gene (FGFR3) [2]. This mutation results in an inhibition of cartilage proliferation and a disorder of enchondral ossification. As a consequence, premature ossification of epiphyseal cartilage is observed. Clinically speaking, the following symptoms are characteristic: disproportionate dwarfism, a relatively large head, midfacial hypoplasia, deformations of the spine, leg axis deviation, „trident hand“. As a primary or secondary consequence, other organ systems can be affected [1,14]. As a result, also anaesthesiological particularities have to be observed.