Cornelia de Lange Syndrome

Excerpt

Cornelia de Lange syndrome (CdLS) was described, in 1933, by the Dutch pediatrician, Cornelia Catharina de Lange, who illustrated two unrelated girls with similar features. Previously, in 1849, the anatomist Willem Vrolik (1801–1863) reported a case as an extreme example of oligodactyly, and the German doctor Brachmann published, in 1916, a case of symmetric monodactyly, antecubital webbing, dwarfism, cervical ribs, and hirsutism. Throughout history, other names for the syndrome have included Amsterdam dwarfism, Bushy syndrome, or Brachmann syndrome.

CdLS is a multisystemic disease expressing variable physical, cognitive, and behavioral characteristics. It is a genetic disorder that affects many organs, leading to various clinical presentations. Typical features of the rare disease include restricted growth with prenatal onset (second trimester), intellectual disability, craniofacial abnormalities, upper limb anomalies, and hirsutism. Additional features include gastroesophageal reflux (GERD), genitourinary malformations, and heart defects.