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.
