The skeletal dysplasias are a group of more than 450 heritable disorders of bone. For improved clinical care it is important to determine a precise diagnosis to aid in management, familial recurrence and identify those disorders highly associated with mortality.
Achondroplasia is by far the most common form of non-lethal skeletal dysplasia. This group of disorders all result from heterozygosity for activation mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3). This group of disorders includes thanatophoric dysplasia, achondroplasia, hypochondroplasia and the very rare severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN).
Genetics - Molecular Pathology
MOLP
4 weeks
4579