Acrodysostosis

What causes it?

The gene responsible for acrodysostosis has not yet been identified and the condition may result from different genetic problems rather than one specific condition.
It appears to be inherited in an autosomal dominant fashion. This means that if one parent is carrying the gene, they will be normal but there is a one in two chance that any child of theirs will have the condition and seems to be more common among older parents.

What are the symptoms?

People with acrodysostosis have certain bones that mature rapidly, before they've had enough time to grow fully. The bones most often affected are those of the nose and jaw, and the long tubular bones of the hands and feet.
This abnormal bone development results in a collection of characteristic features, including a typical facial appearance (short nose, open mouth and prominent jaw), small hands and feet.
Those with acrodysostosis often have some degree of mental retardation and learning difficulties.

What's the treatment?

There's no cure for acrodysostosis but appropriate support by orthopaedic surgeons and paediatricians is important.
Antenatal diagnosis may be made by ultrasound examination of the bones in babies whose mother has the condition, but routine screening isn't done.
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Growth problems

Symptoms
In babies, growth problems usually appear as a failure to put on weight (or occasionally excessive weight gain), although length and head circumference are also important.
From toddlers onwards, height is measured as well as weight and there may be concern if either or both fall below normal. Accompanying symptoms, such as poor appetite or chronic diarrhoea, may be clues to the diagnosis.

 

Causes

Many factors can cause real or apparent failure to grow at a normal rate.
When small babies don't gain enough weight this is known as failure to thrive. The causes range from physical illness (such as inherited conditions or malabsorption) to practical problems with feeding (difficulty breastfeeding, mistakes with formula feeding) and emotional neglect. Premature babies or babies of small parents may seem to have growth problems but be quite normal, while breastfed babies can have a dramatic initial weight gain.
The height and weight of older children varies greatly. There may be growth spurts as well as periods when there seems to be little growth, but they should generally follow the standard growth curve. Growth problems may be due to illness (for example, food absorption problems such as coeliac disease, cystic fibrosis, Crohn's disease or any prolonged illness), infections (growth may slow temporarily with common childhood infections), poor eating habits (rarely affects growth) or psychological problems.
Eating disorders, such as anorexia, can have a serious impact on growth.

Who's affected?

Growth problems are common throughout childhood but are usually temporary. There's rarely a serious underlying problem and most late developers eventually catch up.

Diagnosis and treatment

Children should be regularly measured and their weight and height monitored on standard growth curves (available from your health visitor).
Treatment of growth problems depends on the cause, but you should ensure that babies are getting all the nutrients they need and that older children are eating healthily.
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Eye allergies

Hay fever eyesSeasonal allergic conjunctivitis is the eye equivalent of hay fever and affects up to 25 per cent of the general population. The eyes become itchy, watery and red in the summer pollen season, usually from exposure to grass and tree pollen.
Vernal conjunctivitis is a more severe form of this disease seen in children. The eyes are sticky with a stringy discharge, and it's painful, especially when opening the eyes on waking.
The inner membranes of the eyelid swell and the conjunctiva develops a cobblestone appearance. Corneal damage may occur if the condition is left untreated.
Perennial allergic conjunctivitis tends to occur all year round, with house dust mite and cat allergies. The symptoms are usually milder than those in seasonal allergic conjunctivitis.

Eczema eyes

Although rare, atopic keratoconjunctivitis is the most severe manifestation of allergic eye disease. It occurs predominantly in adult males and is the eye equivalent of severe eczema.
This persistent condition results in constant itching, dry eyes and blurred vision. It's associated with corneal swelling and scarring. Eyelid eczema and infection are common, and lens cataracts may develop over time.

Contact lens allergy

Contact lens wearers may develop giant papillary conjunctivitis, triggered by constant local irritation by the contact lenses on the conjunctival surfaces. The lining of the upper eyelid is usually most affected. Disposable contact lenses may help settle symptoms, but occasionally wearing contact lens has to be suspended.
Never use steroid eye drops unless under the direct supervision of a doctor. Although they're effective for treating eye allergies, they can lead to unwanted side-effects such as glaucoma and cataract formation.
They may also encourage infections of the eye, with resultant corneal scarring.

Eye allergy treatments

Regular use of anti-allergy eye drops such as sodium chromoglycate, nedocromil, olopatidine and lodoxamide can help to treat mild seasonal disease.
Non-sedating oral antihistamines - cetirizine, loratadine, mizolastine and fexofenadine - can also help, especially when there's an associated nasal allergy.
Corticosteroid eye drops occasionally have to be used for more severe eye allergies, but this should be for short periods only.
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How safe is it to have frequent x-rays?

Radiation is all around usAlthough doctors do worry about exposing people repeatedly to x-rays, and there's no doubt that too much exposure to this form of radiation can be harmful, it's important to keep the risks of x-rays in perspective.
We're constantly being exposed to natural radiation from the environment around us - from the earth, through cosmic rays from outer space, even from the food we eat. For example, in the UK, radon gas seeps naturally from the ground and accumulates in homes in many areas (some places are worse than others) accounting for more than half of natural radiation exposure.

The dose from chest x-rays is very small

The dose of radiation you receive each time you have an x-ray is very small, especially given this background of natural radiation. It's certainly many thousands of times smaller than the dose of radiation needed to cause skin burns or radiation sickness. The only risk that needs to be considered is the risk of causing cancer but this is also very small.
The exact dose of radiation depends on the nature of the x-ray but, for example, a chest x-ray is the equivalent of just a few days of natural background radiation. This corresponds to a less than one in 1 million additional risk of developing cancer (a very tiny increase when you realise that we have a one in three chance of getting cancer anyway).
Some x-ray tests have a higher dose of radiation but, even so, the increased risk of cancer is still small. For example, a barium meal test or a CT scan of the chest are equivalent to a few years’ exposure to natural radiation ( for example a single chest CT scan gives approximately 70 times the radiation of a chest x-ray, or approximately 2 years worth of normal environmental background radiation) and an increased risk of cancer of between one in 1,000 and one in 10,000.

X-rays compared with other risks

This means that even if you had chest x-rays taken every week, the increased risk wouldn't be very much. And these risks have to be put into the perspective not just of the benefits of doctors being able to keep an eye on your lungs but also of other risks we choose to expose ourselves to, such as from sports, driving or smoking (very risky indeed).

Exceptions

An unborn child may be more vulnerable to damage from x-rays, and women who could be pregnant should always talk to the radiographer before an x-ray.

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