Williams-Beuren syndrome is a rare genetic disease and its main characteristics are the child's very friendly, hyper-social and communicative behavior, although it presents cardiac, coordination, balance, mental and psychomotor problems.
This syndrome affects the production of elastin, influencing the elasticity of blood vessels, lungs, intestines and skin.
Children with this syndrome start to speak at around 18 months of age, but they are easy to learn rhymes and songs and have, in general, a lot of musical sensitivity and good auditory memory. They usually show fear when hearing clapping, blender, airplane, etc., because they are hypersensitive to sound, a condition called hyperacusis.
Main features
In this syndrome, several deletions of genes can occur, and therefore the characteristics of one individual may be very different from that of another. However, among the possible characteristics may be present:
- Swelling around the eyesSmall and upright noseSmall chinDelicious starry iris in people with blue eyesLittle length at birth and a deficit of about 1 to 2 cm in height per yearCurly hairFleshy lipsPerfect for music, singing and musical instrumentsDifficulty in the intestinalSleep disordersHigher disorders recurrent earStrabismusSmall distant teethFrequent smile, ease of communicationSome intellectual disability, ranging from mild to moderateAttention deficit and hyperactivity At school age, difficulty in reading, speech and math is observed,
It is common for people with this syndrome to have health problems such as high blood pressure, otitis, urinary infections, kidney failure, endocarditis, dental problems, as well as scoliosis and contracture of the joints, especially during puberty.
Motor development is slower, takes time to walk, and they have great difficulty in performing tasks that require motor coordination, such as cutting paper, drawing, cycling or tying their shoes.
When you are an adult, psychiatric illnesses such as depression, obsessive-compulsive symptoms, phobias, panic attacks and post-traumatic stress can arise.
How the diagnosis is made
The doctor discovers that the child has Williams-Beuren syndrome when observing its characteristics, being confirmed through a genetic test, which is a type of blood test, called fluorescent in situ hybridization (FISH).
Tests like kidney ultrasound, assessing blood pressure and having an echocardiogram can also be helpful. In addition, high levels of calcium in the blood, high blood pressure, loose joints and starry shape of the iris, if the eye is blue.
Some peculiarities that can help in the diagnosis of this syndrome are that the child or adult does not like to change the surface wherever he is, does not like sand, nor stairs or uneven surfaces.
How is the treatment
Williams-Beuren syndrome has no cure and that is why it is necessary to be accompanied by a cardiologist, physiotherapist, speech therapist, and teaching in the special school is necessary, due to the mental retardation that the child has. The pediatrician may also order blood tests frequently to assess calcium and vitamin D levels, which are usually elevated.
