de Lange Syndrome

Incidence:
Approximately 1:10,000 live births and believed to be caused by a gene mutation.

Common charachteristics: low birth weight (under 5lbs), slow growth, small stature, small head size, thin eyebrows which often meet in the midline, long eyelashes, short upturned nose and thin downturned lips, excessive body hair, small hands and feet, partial joining of the second and third toes, incurved fifth fingers, missing limbs or portion of limbs, usually fingers, hands or forearms.

Common medical problems include: GERD, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties, and developmental delay, mental retardation ranging from mild to profound. (most are mild to moderate)

Absent or minimal speech has been noted in most children but it is clear that all do communicate. The ability to speak for most individuals is much more difficult than the ability to comprehend language.

Mild to moderate hearing loss or even severe hearing loss is in almost all children with this syndrome.

Strabismus (misalignment of the eye), nystagmus (shaky eyes), nearsightedness, ptosis (drooping of one or both eyelids) are commonly seen in patients with de Lange syndrome. Also, blepharitis is seen in 50% of patients and manifests as recurrent red eyes, crusting on the eyelashes, itchy eyes, tearing, or eye discharge, due to suboptimal flow in the eyelid.

Dental:
These patients tend to have small jaws, poor OH, crowded teeth, small teeth, perio dz, and erosion of teeth due to GERD. Cleft palate is common and should be repaired as soon as possible to help improve speech, reduce ear infections leading to hearing loss, and improve the ability to eat.

Cardiac:
20-30% have congenital heart disease ranging from mild to severe defects. All patients who are diagnosed with this syndrome should be evaluated by a cardiologist.

Behavior:
Patients may be described as being hypersensitive; having strong reactions to ordinary stimiuli that last long after the stimulus is removed. Patients may also be described as being disrhythmic; irregular behavior in eating, sleeping and emotional response.

The Cornelia de Lange Syndrome website www.cdlsusa.com is a great resource with a ton of information if you would like more on this syndrome.