Synonyms

Brachmann-De Lange Syndrome

Brief Description of the Disease

Cornelia de Lange syndrome (CdLS) is a syndrome of multiple congenital anomalies.  It affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.

Defect

Mutations in the NIPBLSMC1A, and SMC3 genes

Manifestation

Characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations that mainly involve the upper extremities.  The facial differences include arched eyebrows that often grow together in the middle (synophrys); long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. Many affected individuals have behavior problems similar to autism.

Incidence

The incidence is 1 case per 10,000-50,000 live births. No differences based on sex or race have been described.

Inheritance

autosomal dominant pattern

Diagnosis

  • Laboratory Study such as GENETIC TESTING.
  • Imaging Studies such as Radiography, and Ultrasonography

Prognosis

Gastrointestinal disease complications are one of the most common causes of death in this syndrome. They include diaphragmatic hernia in infancy and aspiration pneumonia and volvulus at an older age. 

Treatment/Management

Drug therapy currently is not a component of the standard of care for this syndrome, except for clinically indicated situations such as seizures, gastroesophageal reflux, and behavioral symptoms.

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.

Surgery may be necessary for the following conditions:

  • Cleft palate
  • Nasal polyps
  • Gastroesophageal reflux disease
  • Pyloric stenosis
  • Intestinal malrotation/volvulus
  • Undescended testis
  • Lacrimal duct stenosis
  • Hip dislocations

References