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What is it?
Costello syndrome is a rare inherited genetic disorder, also known as faciocutaneoskeletal syndrome or FCS syndrome. It was first reported in 1977 by a paediatrician in New Zealand, who described two children with similar physical features and mild learning disabilities. There's also a characteristic pattern of growth, behavioural problems and physical appearance.
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Symptoms
Children with Costello syndrome are born with a normal or slightly high birth weight. In a few cases, mothers report decreased foetal movement during the pregnancy and in one in three cases, there's excessive fluid around the baby in the womb (polyhydramnios).
Typical features, which become more obvious as the child grows, include:
Heart problems such as hypertrophic cardiomyopathy or abnormal heart rhythms are common, as is reflux or flowing back of the contents of the stomach into the gullet, which may cause feeding problems. There may be an increased risk of various cancers.
Affected children may have learning difficulties, but many have warm social personalities.
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Who's affected?
There are an estimated 300 cases of Costello syndrome worldwide, although more may have gone undiagnosed.
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What causes it?
It is now known that mutations in the HRAS gene causes Costello syndrome. This gene is involved in the manufacture of a protein that helps control cell growth and division. In Costello syndrome mutations of this gene cause cells to grow and divide constantly rather than in response to specific signals to do so. This constant abnormal cell division and overgrowth results in cancerous and non-cancerous tumour growth and is thought to be responsible for the other characteristic signs of Costello syndrome. Disruption of the production of elastic fibres in the tissues is another important feature.
Costello syndrome is believed to have an autosomal dominant pattern of inheritance. Almost all cases have arisen without a family history of the condition as a result of new mutations (rarely, more than one child in a family is affected). There is now a genetic test available to test for Costello syndrome.
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What's the treatment?
There's no cure for Costello syndrome. However, supportive care - from help with feeding in early childhood to special education - and treatment for complications such as heart problems can help affected children reach their potential.
Costello syndrome is a rare inherited genetic disorder, also known as faciocutaneoskeletal syndrome or FCS syndrome. It was first reported in 1977 by a paediatrician in New Zealand, who described two children with similar physical features and mild learning disabilities. There's also a characteristic pattern of growth, behavioural problems and physical appearance.
Top
Symptoms
Children with Costello syndrome are born with a normal or slightly high birth weight. In a few cases, mothers report decreased foetal movement during the pregnancy and in one in three cases, there's excessive fluid around the baby in the womb (polyhydramnios).
Typical features, which become more obvious as the child grows, include:
- Short stature
- Delayed bone age
- Loose, lax, stretchy skin - around the neck, palms, soles and fingers
- Curly hair
- Papillomata (small fleshy growths) around the mouth and nose
- A characteristic facial appearance (wide nostrils, depressed nasal bridge, low-set ears with large earlobes)
- Broad mouth and thick lips
- Pigmented skin
- Drooping of the upper eyelid (ptosis)
- Squint (strabismus)
Heart problems such as hypertrophic cardiomyopathy or abnormal heart rhythms are common, as is reflux or flowing back of the contents of the stomach into the gullet, which may cause feeding problems. There may be an increased risk of various cancers.
Affected children may have learning difficulties, but many have warm social personalities.
Top
Who's affected?
There are an estimated 300 cases of Costello syndrome worldwide, although more may have gone undiagnosed.
Top
What causes it?
It is now known that mutations in the HRAS gene causes Costello syndrome. This gene is involved in the manufacture of a protein that helps control cell growth and division. In Costello syndrome mutations of this gene cause cells to grow and divide constantly rather than in response to specific signals to do so. This constant abnormal cell division and overgrowth results in cancerous and non-cancerous tumour growth and is thought to be responsible for the other characteristic signs of Costello syndrome. Disruption of the production of elastic fibres in the tissues is another important feature.
Costello syndrome is believed to have an autosomal dominant pattern of inheritance. Almost all cases have arisen without a family history of the condition as a result of new mutations (rarely, more than one child in a family is affected). There is now a genetic test available to test for Costello syndrome.
Top
What's the treatment?
There's no cure for Costello syndrome. However, supportive care - from help with feeding in early childhood to special education - and treatment for complications such as heart problems can help affected children reach their potential.