Smith-Magenis Syndrome

Overview

Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Smith-Magenis Syndrome

Topic type

Condition

Category

Neurology

MeSH classification

C10.281.900|C16.131.077.879|C16.131.260.887|C16.320.180.887

Preparing for an appointment about Smith-Magenis Syndrome

If you are speaking with a healthcare professional about Smith-Magenis Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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