Meet a child with CdLS
Cornelia de Lange Syndrome (CdLS
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In 1933, Dutch pediatrician Dr. Cornelia de Lange described two children with similar features. The first child had pneumonia and feeding difficulties. She was very small for her age, with a proportionately smaller head circumference. Other unusual facial characteristics were noted by Dr. de Lange. Soon after, she saw a second little girl with common medical problems and physical characteristics. Nowhere was the puzzled physician able to find a similar patient described in medical literature. Cornelia de Lange is now generally credited with describing the collection of symptoms comprising the syndrome that bears her name.
The syndrome is sometimes referred to as Brachmann-de Lange Syndrome after Dr. W. Brachmann, who described a similar patient in 1916. Dr. de Lange may have overlooked his report because he concentrated on characteristics of the upper limbs and wrote on the facial symptoms less specifically.
How many people have CdLS?
The exact incidence is unclear, but it is thought to be approximately 1 in 10,000 live births. The CdLS Foundation serves about 2,500 people with the syndrome in the U.S.
Is life expectancy known?
It is expected that most children with CdLS will live well into adulthood; however, each child must be evaluated for life-threatening conditions such as heart defects, untreated gastroesophageal reflux, and bowel abnormalities.
What causes CdLS?
Researchers have identified five separate genes (NIPBL, SMC1A, SMC3, HDAC8 and RAD21) that, when altered, cause CdLS..
Is CdLS hereditary?
Not in the usual sense of a gene passing directly from parent to child. Genetic changes occur in individuals with CdLS that typically are not present in their parents, meaning that a new change developed sporadically in those individuals resulting in CdLS. However, there are rare cases when the gene change exists in an unaffected parent’s egg or sperm, resulting in CdLS in the child. Additionally, a person with CdLS who has a child of his or her own can pass the gene change on to the child.
Can CdLS be detected before birth?
High resolution ultrasound may be useful to monitor for unusually poor fetal growth or detectable limb abnormalities. Please see Prenatal Diagnosis of CdLS for more information
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Congenital heart DEFECT
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