Medical Care
Early intervention in patients with Cornelia de Lange syndrome (CdLS) is necessary for feeding problems, hearing and visual impairment, congenital heart disease, and urinary system abnormalities. A retrospective study by Janek et al indicated that hearing loss in Cornelia de Lange syndrome can improve over time. More than half of the study’s 78 patients, seen in an adult Cornelia de Lange syndrome clinic, reported hearing improvement, including a subset of patients with sensorineural hearing loss. [25]
Psychomotor delay
Early intervention for psychomotor delay is also indicated. Computer programs that emphasize visual memory are more beneficial than standard methods of verbal instruction. Perceptual organizational tasks should be emphasized. Tactile stimulation during indirection helps the children remember and perform maximally.
Fine motor activities, when physical impairments do not limit them, should be stressed in education, especially activities related to activities of daily living.
Surgical Care
Surgery may be necessary for the following conditions:
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Cleft palate
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Nasal polyps
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Gastroesophageal reflux disease
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Pyloric stenosis
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Intestinal malrotation/volvulus
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Undescended testis
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Lacrimal duct stenosis
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Hip dislocations
Consultations
Consultation with the following specialists may be indicated:
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Geneticist
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Cardiologist
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Gastroenterologist and nutritionist
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Nephrologist (if recurrent urinary tract infections, impaired renal functions or congenital abnormalities are present)
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Ophthalmologist
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Hearing specialist
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Neurologist
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Facial appearance of a patient with Cornelia de Lange syndrome. Courtesy of Ian Krantz, MD, Children's Hospital of Philadelphia.
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Facial profile of a patient with Cornelia de Lange syndrome. Courtesy of Ian Krantz, MD, Children's Hospital of Philadelphia.
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Severe upper-extremity malformations in a patient with Cornelia de Lange syndrome. Courtesy of Ian Krantz, MD, Children's Hospital of Philadelphia.
Tables
Parameter |
1 point |
2 point |
3 point |
Birth weight |
Above 2,500 g |
2,000–2,500 g |
Below 2,000 g |
Sitting alone |
< 9 mo |
9–20 mo |
>20 mo |
Walking alone |
< 18 mo |
18–42 months |
>42 mo |
Saying first word |
< 24 mo |
24–48 mo |
>48 mo |
Upper limb malformation |
No defect |
Partial defect (>2 digits) |
Severe defect (< 2 digits) |
Number of other major malformations |
0-1 |
2-3 |
>3 |
Hearing loss |
Absent |
... |
... |
A score of less than 15 points indicates mild involvement, a score of 15-22 points indicates moderate involvement, and a score of more than 22 points indicates severe involvement. |
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