An person with CLS may have some or all of the characteristics list below, or any combination. The most diagnostic clues are tapered fingers, downward slanting eyes, and delayed bone development. Distal tufting of the fingertip bones is also highly diagnostic, but this is only visible on X-ray. It is important to remember that each person is unique and that their own genetic makeup will also be a factor.
- hypertelorism - A greater than normal distance between the pupils of the eyes.
- downward slanting palprebral fissures -
The opening between the eyelids is narrow and slants downward from inner corner to outer corner.
- thick septum - A broad nose
with a thicker than normal area between the nostrils.
- everted lips - Large mouth with full, turned out lips
- prominent, low-set ears.
- ptosis - Fullness of the upper eyelids
- prominent eyebrow ridges
- thickened skull with large frontal sinuses
The spine should be monitored regularly for scoliosis and spinal stenosis
- narrow inervertebral spaces
- congenital spinal stenosis
- delayed bone development
- brittle bones
- pigeon chest or tunnel chest
- kyphosis and/or scoliosis (32% to 47% affected)
- short stature - 5th percentile for height (95% affected)
- short, tapered fingers
- tufting of distal phalanges (only visible on X-ray
- puffy hands - soft, elastic skin.
- short, curved fingernails
- hypothenar crease (short, horizontal line in palm of hand below little finger)
- sensorineural deafness
- significant vision problems are uncommon