Smith-Magenis Syndrome

Alternative Names

  • SMS
  • Chromosome 17p11.2 Deletion Syndrome
  • Smith-Magenis Syndrome Chromosome Region
  • SMCR
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

OMIM Number


Mode of Inheritance

Autosomal dominant Isolated cases

Gene Map Locus



Smith-Magenis Syndrome is a rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal). [From Orphanet]

Epidemiology in the Arab World

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Other Reports


Froukh et al. (2017) described a female patient with ID, motor delay, agressive ichthyosis, and short palms and feet. The child was born to consanguineous parents, and was found to carry a >3.5 Mb deletion on chromosome 17p11.2. 

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