Cornelia de
Lange Syndrome (CDLS) is a multiple congenital anomaly syndrome.
Individuals with CDLS often strongly resemble each other and share
many common characteristics such as small stature, small hands
and feet, eyebrows that meet mid-line, long curly eyelashes, short
upturned nose, and thin downturned lips. Limb anomalies, usually
with the fingers, hands or forearms, are also found. The following
is a list of the most common traits:
Low Birth Weight.
Confluent
eyebrows.
Developmental
delay and mental retardation.
Limb
differences - sometimes missing limbs or portions of limbs.
Small
head size - microcephaly.
Excessive
body hair - which may be lost later in life.
Thin
upper lip.
Relative
small hands and feet.
Small
widely spaced teeth.
Low set
ears.
Hearing
impairments.
Vision
abnormalities.
Partial
joining of the second and third toes.
Seizures.
Heart
defects.
Cleft
palate.
Associated
Features:
Respiratory
Difficulties.
Feeding Difficulties.
Psychomotor Delay.
Behavioral Problems.
Hyperactivity.
Self-injury.
Daily Aggression.
Differential
Diagnosis:
Some disorders
display similar or sometimes even the same symptom. The clinician,
therefore, in his diagnostic attempt has to differentiate against
the following disorders which one needs to be ruled out to establish
a precise diagnosis.
Cause:
Research suggests
that some cases involve a genetic component either autosomal recessive
or autosomal dominant. The genetic component being possibly a
duplication in the 3rd chromosome
Treatment:
There is no
cure for CDLS, however, therapeutic interventions can help the
child to reach their full potential. Surgery is used to correct
visceral and orthopedic deformities. Prosthetics may be made for
limb deformities. As movement patterns are often stereotypical
and sensorimotor is delayed overall, a sensory integration program
may be very beneficial. Also, speech pathologists assist the children
with learning alternate means of communication (signing).
Counseling
and Psychotherapy [
See Therapy Section ]
Due
to behavioral disorders, behavioral modification programs may
be a necessity.
Speech
therapy.
Occupational therapy.
Physical therapy.
