PhenomeGene — Human Disease Gene Website SeriesRAI1 Smith-Magenis Syndrome

Clinical Characteristics

SMS clinical features:

•    Facial differences:
o    Coarse facial features
o    Prominent forehead
o    Increased distance between eyes, deep-set eyes
o    Upward-slanted eyes
o    Broad, square-shaped face
o    Flattened upper nose
o    Triangle-shaped upper lip
o    Small lower jaw that appears to extend forward with age

•    Dental problems:
o    Missing teeth, especially premolars
o    Large teeth

•    Ear and throat problems:
o    Hearing loss
o    Reduced tolerance to loud noises
o    Hoarse deep voice
o    Chronic ear infections
o    Growths or lumps on the vocal cords

•    Eye problems:
o    Near-sighted, myopia
o    Keratoconus, with age

•    Neurological and developmental concerns:
o    Mild to moderate learning difficulties
o    Sensory processing issues
o    Strong long-term memory
o    Speech delay
o    Movement delay
o    Delays in reaching developmental milestones
o    Decreased muscle tone
o    Sleep cycle abnormalities
o    Decreased sensitivity to pain

•    Behavioral issues
o    Outbursts/ temper tantrums
o    Attention seeking behaviors
o    Aggression
o    Disobedience
o    Distraction
o    Self-injurious behaviors (such as head banging, skin picking, wrist biting, nail biting and/or nail pulling)
o    Placing objects in mouth, ears, or anus
o    Upper body squeeze or self-hugging
o    Repetitive behaviors
o    Page-flipping or lick and flip movement

•    Skeletal problems:
o    Short height
o    Curved spine - scoliosis
o    Short fingers and toes / small hands & feet

•    Other features:
o    Heart problems
o    Kidney/urination problems
o    Obesity