Clinical Characteristics

PTLS clinical features:

•    Brain developmental findings:
o    Decreased muscle tone as a baby (floppy infant)
o    Difficulty swallowing
o    Decreased growth as a baby
o    Delayed childhood milestones
o    Learning difficulties
o    Speech delay
o    Communication disorder with speech-sound difficulty
o    Issues with speech patterns and tone
o    Snoring and loud breathing during sleep
o    Autism spectrum disorder
o    Hyperactive behaviors
o    Difficulties with coordinated movement (like walking upstairs, escalators)

•    Heart birth defects:
o    Slower blood flow through the left side of the heart
o    Abnormal connection between heart chambers
o    Irregular heartbeats
o    Enlarged aorta

•    Muscle and bone problems:
o    Increased joint movement, hypermobility
o    Curved upper back
o    Flat feet
o    Long fingers and toes

•    Other findings:
o    Far-sighted eyesight
o    Mild inner ear hearing loss affecting consonants
o    Teeth crowding and shifting