| OMIM: | 100800 |
| Diagnostic method: | sequencing |
| Samples required: | 2 ml EDTA blood |
| Duration of analysis: | 1 - 2 weeks |
| Forms: |
Skeletal dysplasia due to mutations in the FGFR3 gene, achondroplasia, are the most frequent cause of disproportionate undergrowth.
Typically, the extremities are proximal shortened, while the trunk and head appear rather long/large. The development of intelligence is predominantly inconspicuous. Hypochrondroplasia is a less severe form than achondroplasia, while thanatophoric dysplasia is the most severe form, which is not compatible with prolonged survival.
Indikation:
- suspicion of hypo- or achondroplasia
- suspicion of skeletal dysplasia in prenatal ultrasound