SADDAN syndrome

Last revised by Rohit Sharma on 21 Sep 2018

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, brain and cutaneous anomalies.

Pathology

Genetics

The syndrome results from a mutation in the FGFR gene (the same gene as is affected in achondroplasia).

ADVERTISEMENT: Supporters see fewer/no ads

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.