Smith-Magenis syndrome

Genetics

• contiguous gene deletion syndrome
• associated with defects in RAI1 gene
• associated with deletion of FLII gene
• associated with deletion of MFAP4 gene
• may be associated with SMCR9

Clinical manifestations

• congenital mental retardation
• development & growth delays
• affected persons have characteristic behavioral abnormalities, including self-injurious behaviors
• sleep disturbance
• dysmorphic features
• distinct craniofacial & skeletal anomalies
• short stature, brachydactyly

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/182290