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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:
1) congenital mental retardation
2) development & growth delays
3) affected persons have characteristic behavioral abnormalities, including self-injurious behaviors
4) sleep disturbance
5) dysmorphic features
6) distinct craniofacial & skeletal anomalies
7) short stature, brachydactyly
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 182290
References
OMIM :accession 182290