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Definition of de Lange syndrome

de Lange syndrome: Is a rare genetic disorder with multiple malformations and mental retardation of unknown origin.

de Lange syndrome is recognized by the presence of:

  • Prenatal and postnatal growth retardation;
  • Delayed development and mental retardation;
  • Abnormally small head (microcephaly);
  • Hair low on the nape of the neck;
  • Characteristic facial appearance with
    • Low-set ears,
    • Hair well down onto the forehead,
    • Bushy eyebrows,
    • Eyebrows that meet in the middle (synophrys),
    • Unusually long eyelashes,
    • Depressed bridge of the nose,
    • Uptilted tip of the nose,
    • Forward-directed nostrils,
    • Protuberance of the upper jaw (maxillary prognathism),
    • "Carp-shaped" mouth, and
    • Small, widely spaced teeth; and
  • Upper limb anomalies with flat spadelike hands with a "simian" (single transverse) palmar crease and short tapering fingers.

The great majority of children with de Lange syndrome have no known family history of the disorder. There are, however, some reports of familial cases. These reports suggest autosomal dominant transmission with a mildly affected parent having a more seriously affected child. The chance is from 2 to 5% that a child whose sib has de Lange syndrome will also have the syndrome.

In familial de Lange syndrome, a gene on chromosome 5 is mutated. The gene is NIPBL (Nipped B-like). It is so named for its counterpart in fruit flies (Nipped B) which look to have a small nip taken out of their wings. In both fruit flies and human beings, the gene appears to be involved in the very early stages of embryonic development. NIPBL contains the information needed to make a protein that helps to switch on a number of other genes.

The syndrome is named for a Dutch physician, de Lange (whose first name was Cornelia). She was professor of pediatrics in Amsterdam. In 1933, Dr. de Lange reported 2 infant girls with mental deficiency and other features now associated with the syndrome.

The syndrome is also called the Brachmann-de Lange syndrome, thanks to Dr. John Opitz who has recounted that: "In the fall of 1963...the former head of the...Libraries, came to ask my advice on what to do with a series of volumes of the Jahrbuch fur Kinderheilkunde, which had been damaged...by a burst water pipe. In particular, she was upset by volume 84, dated 1916, the pages of which were completely glued together except for one place, the article beginning on p. 225. I was startled to find out that here was an article on the Cornelia de Lange syndrome written 17 years before de Lange's first paper of 1933. The author, Dr. W. Brachmann, whose subsequent fate is unknown to me, was then a young physician in training, who apologized that his study of this remarkable case was interrupted by sudden orders to report for active duty (in the German Army)."

Source: MedTerms™ Medical Dictionary
http://www.medicinenet.com/script/main/art.asp?articlekey=13301
Last Editorial Review: 9/20/2012

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