Cornelia de Lange Syndrome
Patient Information
Characteristics
Background and History
This congenital condition is named after the Dutch pediatrician, Cornelia Catharina de Lange, who published several papers on it in the 1930s. Today it is a well-recognized congenital condition.
Clinical Correlations
This is a disorder with significant mental and physical abnormalities. Slow mental and physical growth is common. The facial features are characteristic with bushy eyebrows, thin lips, an upturned nose, long eyelashes, and low-set ears. The teeth are often widely spaced, the head may be small, and there are often bone defects in the arms and legs. Stature tends to be short and malformations of the urinary tract are frequent. A variable degree of mental retardation is common and many patients have features of the autism spectrum with little interest in social interactions. Hear loss is common.
Ocular features may be minor but some have drooping eyelids and a large refractive error requiring glasses correction. Retina problems have been reported in a few patients.
Genetics
Inheritance
Most cases occur sporadically and few have a family history of similarly affected relatives. In a few families the pattern is vertical suggesting autosomal dominant inheritance. However, less than 1% of affected individuals have similarly affected parents.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
The diagnosis is usually made by a pediatrician or medical geneticist during the neonatal period. There is no genetic treatment available. Most patients live a nearly normal lifespan.
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