Not all people with CdLS will have all of these features.
Individuals with Classic CdLS have:
- Distinctive facial features in more than 95%
- Highly arched eyebrows with synophrys
- Long eyelashes
- short upturned nose
- Small widely-spaced teeth
- Long philtrum
- Thin upper lip with down-turned corners of the mouth
- 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
- Cardiac (25%)
- Gastrointestinal dysfunction (85%)
- Seizures (25%)
- Hearing loss (sensorineural hearing loss in 80% with 40% being profoundly affected)
- Nearsightedness (myopia) (60%)
- Upper eyelid drooping (ptosis) (50%)
- Involuntary eye movement (nystagmus) (37%)
- Absence of one or both testes (73%)
- Underdeveloped genitalia (57%)
- Abnormal flow of urine from bladder (12%)
- Individuals with this type of CdLS have many of the characteristic facial features but with less cognitive and limb involvement.