Coffin-Lowry Syndrome Foundation

CLS Characteristics

A person with CLS may have some or all of the characteristics listed below, or any combination.  The most diagnostic clues that are common to all persons with CLS 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.

Craniofacial

• 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

Skeletal

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)

Hands

• 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)

Hearing Impairment

• sensorineural deafness
• significant vision problems are uncommon

 

Cognitive / behavior

• severe intellectual disability in most cases - rarely, mild to moderate
• pleasant personality - their good temperment remains intact throughout life
• females have a higher rate of psychiatric illness than the general population
• speech is always affected but to variable degrees
• some autistic-like behaviors:
  • perseverative speech
  • general anxiety
  • sensory defensiveness
  • temper tantrums
  • emotional outbursts
  • over- or undersensitivity to pain
  • no fear of danger or strangers
  • aggressive or self-injurious behaviors

Cardiac Involvement

About 14% of males and 5% of females have cardiovascular disease [Hunter 2002] - annual cardiac examination, including echocardiogram by age ten and repeated every five to ten years is recommended.

• abnormalities of the mitral, tricuspid and aortic valvues, mitral valve stenosis
• short chordae
• cardiomyopathy
• congestive heart failure
• dilation of the aorta and pulmonary artery

Mobility

• sitting, crawling and walking are delayed
• problems with fine and gross motor coordination
• loss of strength and muscle mass
• ataxic gait
• both decreased and increased deep tendonreflexes
• progressive spasticity
• progressive paraplegia with loss of ability to walk, due to calcification of the ligamenta flava and congenital stenosis (narrowing) of the spinal canal
• epileptic seizures affect about 5% of individuals [Stephenson et all 2005]
• sensory integration issues and sensory defensiveness, most noticeable in early childhood
• stimulus-induced drop episodes (SIDEs) unexpected tactile or auditory stimuli or excitement triggers a brief collapse but no loss of consciousness - treatment includes medications such as valporate, clonazepam, selective serotonin uptake inhibitors or limotrigine

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