Cornelia de Lange Syndrome
Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation, developmental delay, hirsutism, and limb abnormalities. Craniofacial features include synophrys, arched eyebrows, long eyelashes, small upturned nose and thin downturned lips, small widely spaced teeth, and microcephaly.
Additional findings may include cardiac defects, gastrointestinal dysfunction, hearing loss, myopia, seizures, cleft palate, and cryptorchidism or hypoplastic genitalia.
The prevalence of disorder is estimated at 1:50,000 for the classic form of CdLS. CdLS can be inherited in an autosomal dominant or X-linked manner.
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing of at-risk female relatives
3. Prenatal diagnosis for known familial mutation
4. Genetic counseling
Barisic I et al. EUROCAT Working Group. Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A.2008;146A:51–9.
Deardorff MA et al. Cornelia de Lange Syndrome. GeneReviews® 2005 Sept 16 (Updated 2011 Oct 27).
Kline AD et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet. 2007;145C:248–60.