SADDAN syndrome

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SADDAN syndrome

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Achondroplasie

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).

Siehe auch:

• Achondroplasie