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Smith-Magenis Syndrome

Smith-Magenis Syndrome Causes

Smith-Magenis syndrome is caused by an irregularity or defect in the short arm of chromosome 17.

Smith-Magenis Syndrome Definition

Smith-Magenis syndrome is a unique and clinically identifiable genetic medical condition marked by a specific pattern of physical, behavioral and developmental characteristics and presentations. It is a rare disorder estimated to occur in roughly one out of every 25,000 births.

Smith-Magenis Syndrome Diagnosis

High resolution chromosome analysis is useful to confirm diagnosis of Smith-Magenis syndrome.

Smith-Magenis Syndrome Symptoms and Signs

Common characteristics of a child with Smith-Magenis syndrome include some or all of the following: • Distinct facial features: short wide head, mid-face hypoplasia, prominent forehead, epicanthal folds, wide nasal bridge, protruding jaw and abnormalities in the ear • short fingers and toes • Short stature • Unusually deep and hoarse voice • Delayed speech • Learning disabilities • Mental retardation • Hypotonia or poor muscle tone • Feeding problems in infants • Eye Irregularities or defects • Sleep disturbances • Pain insensitivity • Behavioral problems which may include: (a) Hyperactivity (b) Head banging (c) Hand or nail biting (d) Skin picking (e) explosive outbursts (f) tantrums (g) destructive and aggressive behavior (h) excitability (i) squeezing the arm when excited

Smith-Magenis Syndrome Treatment

There is no cure for Smith- Magenis syndrome; symptomatic treatment is carried out to help alleviate the existing symptoms. Therapies are also considered as part of improving the condition and controlling some behavioral problems of the child with Smith-Magenis syndrome.

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