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at are the symptoms?
Children with CdLS are small at birth and remain small for their age, usually reaching between 4 and 5 foot by adulthood.
They also have characteristic physical features which can make all those children with the syndrome look very alike. Facial features include hirsutism (hairiness), thin eyebrows that often meet in the middle, long eyelashes, low-set ears, widely spaced teeth, a short upturned nose and down-turned lips.
Most have limb abnormalities, ranging from small arms to the complete absence of the forearm. Heart defects, especially a hole between the two sides of the heart, are also common, affecting at least 10%. Most children have hearing problems, and seizures (fits) are another common feature.
Children with CdLS are slow learners, although learning disabilities range from mild to severe. The development of speech is often very delayed and many with CdLS never learn to speak fluently, although they may learn to use some sign language.
Cornelia de Lange Syndrome is usually divided in to two types – the more severely affected Classic CdLS and the less severely affected mild CdLS.
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Who's affected?
It's estimated that between one in 40,000 and one in 100,000 newborns are affected.
CdLS is an inherited condition caused by one of several possible abnormalities in the genes. Mutations in the NIPBL, SMC1A and SMC3 genes cause the syndrome. NIPBL gene mutations are the most common cause, accounting for about 50% of cases. This gene is responsible for producing delangin, a protein involved in directing development before birth. When the NIPBL gene is abnormal there is abnormal or non-functioning versions of delangin which causes the characteristic signs of CdLS.
Almost all cases occur in people with no family history of the condition, and result from new mutations of the specific genes. Very rarely are two children in the same family both affected.
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What's the treatment?
There's no cure, but medical therapies and procedures can often help with the symptoms. Speech therapy and special educational support are very important in helping the child top reach their potential.
No specific antenatal test is available, but ultrasound imaging may show warning signs in an unborn child such as growth retardation, limb defects, hirsutism, and diaphragmatic hernia.
Children with CdLS are small at birth and remain small for their age, usually reaching between 4 and 5 foot by adulthood.
They also have characteristic physical features which can make all those children with the syndrome look very alike. Facial features include hirsutism (hairiness), thin eyebrows that often meet in the middle, long eyelashes, low-set ears, widely spaced teeth, a short upturned nose and down-turned lips.
Most have limb abnormalities, ranging from small arms to the complete absence of the forearm. Heart defects, especially a hole between the two sides of the heart, are also common, affecting at least 10%. Most children have hearing problems, and seizures (fits) are another common feature.
Children with CdLS are slow learners, although learning disabilities range from mild to severe. The development of speech is often very delayed and many with CdLS never learn to speak fluently, although they may learn to use some sign language.
Cornelia de Lange Syndrome is usually divided in to two types – the more severely affected Classic CdLS and the less severely affected mild CdLS.
Top
Who's affected?
It's estimated that between one in 40,000 and one in 100,000 newborns are affected.
CdLS is an inherited condition caused by one of several possible abnormalities in the genes. Mutations in the NIPBL, SMC1A and SMC3 genes cause the syndrome. NIPBL gene mutations are the most common cause, accounting for about 50% of cases. This gene is responsible for producing delangin, a protein involved in directing development before birth. When the NIPBL gene is abnormal there is abnormal or non-functioning versions of delangin which causes the characteristic signs of CdLS.
Almost all cases occur in people with no family history of the condition, and result from new mutations of the specific genes. Very rarely are two children in the same family both affected.
Top
What's the treatment?
There's no cure, but medical therapies and procedures can often help with the symptoms. Speech therapy and special educational support are very important in helping the child top reach their potential.
No specific antenatal test is available, but ultrasound imaging may show warning signs in an unborn child such as growth retardation, limb defects, hirsutism, and diaphragmatic hernia.