SADDAN syndrome is an acronym for severe achondroplasia with developmental delay and acanthosis nigricans. It is an extremely rare condition, and as the name states, comprises a combination of skeletal anomalies includes craniosynostosis 2, brain and cutaneous anomalies.
Pathology
Genetics
The syndrome results from a mutation in the FGFR gene (the same gene as is affected in achondroplasia).
Unable to process the form. Check for errors and try again.