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Learn more about features of CdLS.

Not all people with CdLS will have all of these features

Individuals with Classic CdLS have:

Distinctive facial features
  • Distinctive facial features in more than 95%
Small stature
  • Heith and weight remain below 5th percentile
Upper limb abnormalities
  • 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
Hair
  • 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
Intellectual disability

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


Autistic behaviors

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

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

Mild CdLS

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