Cornelia de Lange syndrome (CdLS) is a syndrome of multiple congenital anomalies characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioural problems, and associated malformations that mainly involve the upper extremities. Cornelia de Lange first described it as a distinct syndrome in 1933, although Bachmann had described a child with similar features in 1916. Diagnosing classic cases of Cornelia de Lange syndrome is usually straightforward; however, diagnosing mild cases may be challenging, even for an experienced clinician
HOW IS CORNELIA DE LANGE SYNDROME DIAGNOSED?
A general physician would guide on taking certain tests along with physically examining the child. There are various forms of psychological testing available too that help in determining the same.
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
DID YOU KNOW?
This is genetic problem and can be also be inherited due to genetic mutation. In many cases, there is a chance that such disorders may be detected during the prenatal stage and needed procedures can be taken.