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
