Characteristics/Symptoms

Not all people with CdLS will have all of these features.

Individuals with Classic CdLS have:

  • Distinctive facial features in more than 95%

    • Heith and weight remain below 5th percentile

    • Upper limb abnormalities occur in 25% of individuals and can be severe
      • More severely affected individuals may be missing fingers and/or have shortened bones in their arms
      • Surgery may be needed in order to make the arms and hands more functional
      • Radio-ulnar synostosis (a fusing of the forearm bones) may be present
      • In the absence of structural differences, the arms and hands are often smaller than usual for their age and even for their overall size

    • The hair on the head may be thick and may extend down onto the face or in the front of the ears
    • Body hair may be thicker and more extensive than usual

    Degree of intellectual disability ranges from mild to profound.

    • IQ ranges from 30-86 (mean 53) in most individuals with CdLS.
    • Expressive communication is often poor

    Many individuals demonstrate autistic and self destructive behaviors.

    • Individuals may avoid or reject social interactions and physical contact
    • Behavior problems may be caused by frustration and inability to speak
    • Some temperature intolerance and decreased pain sensation

    Other features

    • Cardiac (25%)
    • Gastrointestinal dysfunction (85%)
    • Seizures (25%)
    • Hearing loss (sensorineural hearing loss in 80% with 40% being profoundly affected)
    • Vision
      • Nearsightedness (myopia) (60%)
      • Upper eyelid drooping (ptosis) (50%)
      •  Involuntary eye movement (nystagmus) (37%)
    • Genitourinary
      • Absence of one or both testes (73%)
      • Underdeveloped genitalia (57%)
      • Abnormal flow of urine from bladder (12%)

    Mild CdLS

    • Individuals with this type of CdLS have many of the characteristic facial features but with less cognitive and limb involvement.