Cornelia De Lange Syndrome

Cornelia de Lange syndrome (CdLS; OMIM #122470) is a multisystem developmental, genetic disorder. It is often termed as Bushy Syndrome and also known as Amsterdam dwarfism. It was first described by Vrolik in 1849, who reported a case as an extreme example of oligodactyly (Oostra et al 1994). Brachmann [1916] provided a detailed account of a case of symmetric monodactyly, antecubital webbing, dwarfism, cervical ribs and hirsutism. In the 1930s, Cornelia de Lange, a Dutch pediatrician, described two unrelated girls with similar features and named the condition after the city in which she worked: typus degenerativus amstelodamensis (de Lange 1933, de Knecht-van Eekelen & Hennekam 1994). Some examples in the literature

Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The affected individuals show variable features of this disorder. It ranges from relatively mild to severe. Cornelia de Lange syndrome is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, feeding difficulties and distinctive facial features. The distinctive facial features include synophrys (arched eyebrows that often grow together in the middle), long eyelashes, depressed nasal bridge, an uptilted nasal tip and anteverted nares, thin upper lip with downturned corners of the mouth, widely spaced teeth and posteriorly rotated low-set ears. Abnormalities in the upper extremities range from small hands to oligodactyly and severe reduction

Additional features include hearing loss, palatal abnormalities, genitourinary abnormalities, cardiac septal defects and congenital diaphragmatic hernias. Growth retardation typically has a prenatal onset, is an almost universal finding in CdLS. The mental retardation in CdLS is often severe, with a mean IQ of 53 (range 30–86) (Kline et al. 1993b). Many patients also demonstrate autistic-like behavior affecting communication and social interaction and self-injurious behavior (Jackson et al.