Cornelia de Lange Syndrome 1

Alternative Names

  • CDLS1
  • CDL
  • CDLS
  • Typus Degenerativus Amstelodamensis
  • De Lange Syndrome
  • Brachmann-de Lange Syndrome
  • BDLS

Associated Genes

Nipped-B-Like
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

122470

Mode of Inheritance

Autosomal dominant; Isolated cases

Gene Map Locus

5p13.2

Description

Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects between one in 10,000 to 30,000 neonates. Affected infants are characterized by slow post and prenatal growth, distinctive facial features, severe to profound mental retardation, and upper limb reduction defects, ranging from minor phalangeal abnormalities to oligodactyly. Abnormal facial features typical of CdLS include microcephaly, arched confluent eyebrows, long eyelashes, low-set ears, low hairlines, small, upturned nose, cleft palate, small widely spaced teeth, and a small lower jaw. Other features seen in this condition are hirsutism, hearing loss, cryptorchidism, myopia, cardiac septal defects, as well as autistic features. Average IQ levels are around 53.

At least three different genes have been implicated in the development of CdLS. About 30-50% of cases of the condition have been shown to be due to mutations in the NIPBL gene. This gene, codes for a protein known as delangin, which is assumed to play a role in embryonal development. The specific role this protein is not clearly known. However, there is evidence to show that the delangin protein may be playing a structural role in chromatin formation and sister chromatid cohesion.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
122470.1Saudi ArabiaMaleYes Intrauterine growth retardation; Global ...NM_133433.4:c.5464G>CHeterozygousAutosomal, DominantMaddirevula et al. 2018

Other Reports

Arab

Naguib (1992) reported an Arab girl with Cornelia de Lange syndrome. This patient showed minimal physical retardation. Further details on this report could not be accessed.

[Naguib KK. Brachmann de lange syndrome with minimal physical retardation and age effect on phenotype in an Arab female. Alex J Pediatr. 1992; 6(1):111-7.]

Kuwait

Naguib et al. (1987) described a family with phenotypically normal first-cousin parents and two offspring showing variable features of this disorder. The proband had apparently normal chromosomes and had died at the age of 3 months. His sister was less severely affected and lived for 6 years. Naguib et al. (1987) suggested recessive inheritance.

Lebanon

Dowswett et al (2019) undertook a facial analysis study of patients with Cornelia de Lange syndrome across diverse populations. The study included two Lebanese patients. 

Oman

Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in Nizwa Hospital. Of the 21,988 total births in the hospital, one child was born with Cornelia de Lange Syndrome.

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