Disease Overview. Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is generally apparent at birth (congenital). Associated symptoms and findings typically include delays in physical development before and after birth (prenatal and postnatal growth delay); characteristic appearance of the head and facial (craniofacial) area, resulting in a distinctive facial appearance.. What is Cornelia de Lange Syndrome? Cornelia de Lange Syndrome (CdLS) is a rare developmental disorder that is present from birth. The syndrome was named after the Dutch children’s doctor ornelia de Lange, who first described the disorder in 1933 (1). It is estimated that between 1 in 10,000 and 1 in 30,000 people in the population have CdLS (2).
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Cornelia de Lange syndrome (CdLS) mask and heat maps depicting the… Download Scientific Diagram
Facial profile of neonate showing typical features of Cornelia de Lange… Download Scientific
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Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include.. Cornelia de Lange syndrome (CdLS) (Online Mendelian Inheritance in Man (OMIM) entries 122470, 300590, 300882, 610759 and 614701) is a multisystem disorder with physical, cognitive and behavioural.
