genes

The molecular basis of an increasing number of birth
defect syndromes is being defined, as genes involved in various
processes instrumental in programming early embryonic
development are identified. Mutations in the family of
fibroblast growth factor receptor genes have been found in
some skeletal dysplasias (achondroplasia, hypochondroplasia
and thanatophoric dysplasia), as well as in a number of
craniosynostosis syndromes. Other examples include mutations
in the HOXD13 gene in synpolydactyly, in the PAX3 gene in
Waardenberg syndrome type I, in the PAX6 gene in aniridia
type II, and in the SOX9 gene in campomelic dysplasia.