Cornelia de Lange Syndrome is a developmental disorder that affects different parts of the body. It is very rare genetic disorder characterized by multiple congenital anomalies. Common symptoms of the syndrome are:
• Distinctive facial appearance
• Pre- and post- natal growth deficiency
• Feeding difficulties
• Behavioural problems
• Intellectual disabilities
• Excessive body hair
• Hearing loss
• Extra-long eyebrows and eyelashes
HOW IS CORNELIA DE LANGE SYNDROME DIAGNOSED?
The diagnosis of Cornelia de Lange syndrome (CdLS) is done before birth (prenatally) through the use of ultrasound imaging. In most cases, CdLS is diagnosed and confirmed after birth based upon a thorough clinical evaluation and identification of characteristic physical findings. Molecular genetic testing for the NIPBL and SMC1L1 gene mutations associated with CdLS is available to confirm the diagnosis and is particularly helpful when the physical features are mild or unusual
HOW IS CORNELIA DE LANGE SYNDROME TREATED?
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.
Early intervention for the psychomotor delay is also indicated.
Surgery may be necessary for the following conditions:
1. Cleft palate
2. Nasal polyps
3. Gastroesophageal reflux disease
4. Pyloric stenosis
5. Intestinal malrotation/volvulus
6. Undescended testis
7. Lacrimal duct stenosis
8. Hip dislocations