SADDAN
ORPHA: 851651 Treatment Available
Overview
autosomal dominant disease characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has material basis in heterozygous mutation in the FGFR3 gene on chromosome 4p16
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| vosoritide Orphan Cold Chain | subcutaneous injection, 0.4mg, 0.56mg, 1.2mg vials | FDA Approved | 8 | 21d |
Clinical Presentation
Signs and symptoms associated with SADDAN, sourced from HPO and Orphanet clinical annotations.
MicrocephalyAbnormal clavicle morphologyAcanthosis nigricansHypoplasia of the corpus callosumGeneralized-onset seizureFemoral bowingTibial bowingMetaphyseal chondrodysplasiaAplasia/Hypoplasia of the mandibleFibular bowingSevere intellectual disabilitySevere global developmental delayEnlarged cerebellumBrain atrophy
Classification & Codes
Orphanet Code
ORPHA:85165SADDAN
| Orphanet | ORPHA:85165 |
| Treatments | 1 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO