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de Lange Syndrome

Background

Cornelia de Lange syndrome (CDLS) is a rare but well-known multiple congenital anomaly/mental retardation (MCA/MR) disorder. Cornelia de Lange syndrome is entry 122470 in the Online Mendelian Inheritance in Man (OMIM) database for Cornelia de Lange syndrome 1 (CDLS1), autosomal dominant; 300590 for Cornelia de Lange syndrome 2 (CDLS2), X-linked; 610759 for Cornelia de Lange syndrome 3 (CDLS3), autosomal dominant; 614701 for Cornelia de Lange syndrome 4 (CDLS4), autosomal dominant; and 300882 for Cornelia de Lange syndrome 5 (CDLS5), X-linked.

The essential features of this multisystem developmental disorder include prenatal and postnatal growth retardation, distinctive facial appearance, hirsutism, various structural limb abnormalities (mostly upper), neurodevelopmental delay, and behavioral problems. In 1849 Vrolic and in 1916 Brachmann reported the first cases in the literature,
describing a child at autopsy with severe growth retardation, hirsutism, and an additional finding of upper limb deficiencies. In 1933, Cornelia de Lange described 2 unrelated infant girls with mental retardation and similar dysmorphic features under the designation typus degenerativus amstelodamensis.
de Lange suggested that these manifestations comprised a new malformation syndrome.

Because of their contributions, both Brachmann’s and de Lange’s names have been attached to the syndrome, Brachmann-de Lange syndrome (BDLS). Several hundred cases have been reported. Consensus among clinical geneticists on the phenotypic dichotomy with classic and mild cases was reached at the 12th Annual D.W. Smith Workshop on Malformations and Morphogenesis in 1991.

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