Diagnostic criteria for Cornelia de Lange Syndrome
( cautionary statement )

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.

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.

Fetal Alcohol Syndrome.

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:

 Due to behavioral disorders, behavioral modification programs may be a necessity.

Speech therapy.
Occupational therapy.
Physical therapy.