English Version
OrphanAnesthesia
F. Oppitz, E. Speulda

Achondroplasia

Achondroplasia

Schlüsselwörter Achondroplasia; ICD 10: Q77.4; Chondrodysplasia, chondrodystrophia fetalis; skeletal dysplasia
Keywords Achondroplasia; ICD 10: Q77.4; Chondrodysplasia, chondrodystrophia fetalis; skeletal dysplasia
Zusammenfassung Dieser Beitrag enthält keine Zusammenfassung
Summary

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.

Englisch

Supplements OrphanAnesthesia