Characteristic facial features:
- Rosy coloring over face and nose
- High prominent forehead with receding hairline
- Down slanting eyelid openings (palpebral fissures)
- Long narrow face
- Prominent jaw with narrow chin and a high, narrow palate
Learning difficulties:
- Developmental delay
- About 15-20% have normal intelligence
- Ranges from mild to severe
- IQ is in normal range (>70) in most individuals
- Motor skill delays due to:
- Large size
- Hypotonia
- Poor coordination
- Some children will have feeding difficulties as newborns
- Expressive language delay
Overgrowth:
- Over 90% of children have a height and/or head circumference 2 + SD above the normal
- Height may normalize in adulthood, but head size remains large
- Disproportionately large hands and feet
- Advanced bone age
- Poor fine motor control
- Cranial MRI/CT abnormalities
- Joint laxity
- Dental abnormalities
- Soft enamel
- Premature tooth eruption
- Frequent upper respiratory issues
- Behavior problems
- Anxiety
- Depression
- Phobias
- Sleep disturbances
- Tantrums
- Irritability
- Stereotypies
- Inappropriate speech
- Withdrawal
- Hyperactivity
- Feeding difficulties
- Reflux
- Dislocated hips/club feet
- Autonomic dysfunction
- Flushing
- Excessive sweating
- Poor temp control
- Congenital cardiac anomalies – about 20%
- Renal anomalies
- Scoliosis – about 40%
- Seizures – about 30%
- Constipation
- Eye problems
- Astigmatism
- Cataracts
- Myopia
- Nystagmus
- Strabismus
- Conductive hearing loss
- Thyroid disorders
- Glucose intolerance
- Hemihypertrophy (uneven limb length or body mass on one side)
- Neoplasms and cancers (rare)