Cornelia de Lange Syndrome with Congenital Glaucoma

Cornelia De Lange syndrome (CDLS), also known as Brachmann de Lange syndrome is a rare syndrome. It ischaracterised by distinctive facial dysmorphism, growth retardation,developmental delay, upper limb reduction defects, gastroesophageal dysfunction, ophthalmologic and genitourinary anomalies, hirsutism, pyloric stenosis, congenital diaphragmatic hernias, cardiac septal defects, and hearing loss. The syndrome was first described by a Dutch paediatrician named Cornelia de Lange, in 1933.

Though the genetic basis of this syndrome is not clear, a majority of cases are due to spontaneous mutations. The defective gene can be inherited from either parent, making it autosomal dominant type of inheritance.

Synophrys, long curled lashes, myopia, and hypertrichosis of the brows. These patients have also been found to have ptosis, epiphora, nasolacrimal duct obstruction, and micro cornea, congenital glaucoma, corneal opacities, iris heterochromia and optic nerve head pallor/atrophy.