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Williams-Beuren syndrome or Williams syndrome is a rare disease of genetic cause that is characterized by alterations in neural development and typical facial features resembling a Pixie .
This disease was first described in 1961 by Dr. Joseph Williams, a specialist in cardiology and originally from New Zealand, who along with his team described four cases of pediatric patients with narrowing of the aortic heart valve, mental retardation , and certain facial features common as wide front, spaced eyes, thick lips and flared nose.
The prevalence of this disease according to the scientific literature has increased considerably in the last twenty years, through a case every twenty thousand newborns live to present reports talking of one case per each eight thousand newborns alive. Because basically that now medical paediatricians and neonatologists have one much greater of these genetic-based diseases knowledge, whose diagnosis has improved since the discovery of the human genome and the application of new technologies of amplification and sequencing of DNA in molecular genetics laboratories.
Williams syndrome prognosis is variable and depends on the severity of the anomalies and the degree of mental retardation that patient. Some affected reach adulthood and are able to live independently, complete basic school or even high school or vocational training. Others live in supervised homes or mostly with a caregiver.
Parents can increase the chances that your child is able to live independently with the early teaching of skills self-help and early insertion into individualized educational programs designed to improve cognitive development and correct the negative personality traits.

Why does Williams syndrome?

Williams syndrome patients have a deletion (type of mutation in the genes or genetic material is lost) of approximately a 26 genes contiguous along the long arm of chromosome 7, specifically in the chromosomal region 7q11.23. Among these genes which are lost is elastin (ELN)gene, which has as a consequence that this protein does not occur in sufficient quantities.
It elastin is a protein that is found in the connective tissue, providing the ability to give for example skin and blood vessels (arteries primarily). Therefore, those affected by Williams syndrome have only one (instead of two) the elastin gene, which causes the common cardiac and vascular diseases in these patients.

Symptoms of Williams syndrome

The characteristic signs of the patient affected by Williams syndrome are as follows:

Cardiovascular alterations

  • Narrowing of the artery aorta immediately above the aortic valve (what is known as supravalvular aortic stenosis), which can range from mild to severe and that can cause heart failure.
  • Narrowing (stenosis) of the renal arteries, resulting in increased blood pressure.
  • Narrowing (stenosis) of the coronary arteries responsible for bringing blood to the heart, which can lead to sudden death.
  • High blood pressure.

Gastrointestinal disorders

  • Difficulty sucking from the moment of birth.
  • Difficulty swallowing food.
  • Hiatus hernia, recurrent vomiting and gastroesophageal reflux.
  • Slowness in the Peristaltic movements of the bowel causing constipation tendency.
  • Chronic abdominal pain and cramping type (like cramping).
  • Abdominal pain of repetition by stenosis of the arteries that carry blood to the gut (mesenteric arteries).

Alterations of the nervous system

  • Mental retardation, whose severity is variable grade.
  • Attention deficit and hyperactivity.
  • Decreased muscle tone.
  • Disability for viso-spatial orientation, they can observe a full object, recognize it and call it by name, but they are unable to do the same if it's objects composed of several parts.
  • Difficulty in coordination fine motor movements such as drawing and writing.
  • Gross motor difficulty problems up and down stairs.
  • Social disinhibition and verbosity (talk a lot and very fast).

Facial alterations

  • Cheeky dwarf's nose and flattened nasal bridge.
  • Wide mouth and thick lips.
  • Groove naso labial and epicanthal folds (crease internal of the upper eyelid) pronounced.
  • Teeth with small enamel, incomplete or spaced teeth.

Other features

  • Small genitalia.
  • Growth retardation, problems to gain weight and height.
  • Skin with aged appearance.
  • Hoarse voice tone.
  • High levels of calcium in the blood (hypercalcemia).
  • Strabismus and hypermetropia (difficulty seeing close objects).
  • Otitis media, to repeat.
  • Ease when it comes to learning the language.
  • Super auditory memory and special interest music.
  • They tend to be left-handed and used the left eye.

Diagnosis of Williams syndrome

· Presumption of Williams syndrome diagnosis begins from the pregnancy, if the mother is made the regular prenatal checks, including obstetric ultrasonography, renal arteries, heart and nervous system malformations tests tend to be obvious and allow medical Sonographer to identify the existence of Williams syndrome in the fetus studied.
· Immediately after birth, the diagnosis of Williams syndrome is confirmed by the physical characteristics of the newly born and testing as the cardiac ultrasound (echocardiography), brain ultrasound and abdomino-pelvic ultrasound.
· The diagnosis by molecular genetics is made from a patient's blood sample. Once extracted DNA two techniques can be used to assess chromosome 7 and the deletion (type of mutation in the genes or genetic material is lost) the elastin gene: analysis of micro-array (biochip or chip of microscopic fragments of DNA attached to a solid surface that allows to evaluate multiple genes at once) or the test of fluorescent hybridization in situ (FISH) , a chromosomal analysis technique that uses a DNA probe labeled with a fluorescent particle. So the DNA is subjected to a process of denaturation, i.e. separation of the two strands. Subsequently add the labeled probe, which will be joined by complementarity to the specific site within the DNA molecule, thus detecting anomaly that they are looking for. It then undergoes a process of hybridization to again join the two strands of DNA. Finally the sample is observed in a special microscope that allows to detect the fluorescence emitted by the probe if it has joined with the target site.

Treatment of Williams syndrome

There is currently no specific treatment for Williams syndrome. Patients with this pathology should be evaluated by a group of experts made up of pediatricians, neurologists, cardiologists, gastroenterologists, speech therapists, physical therapists...
Based on the clinicos-radiologicos findings indicate specific for each symptom treatments that will be individualized for each patient depending on the severity of the clinical manifestations of the syndrome that present.
For example:
  • If you have high blood pressure you will receive drugs anti-hypertensive.
  • If you have cardiac rhythm problems they will prescribe them anti-arrhythmia drugs.
  • For reflux gastro-oesophageal give them drugs such as domperidone, gastric protectors (omeprazole, esomeprazole) and changes in positions to sleep as the elevation of the head of the bed.
  • Exercises conducted by physiotherapists to improve muscle tone can be indicated.
  • From the surgical point of view they can be necessary surgeries to correct heart problems as the supra-valvular aortic stenosis, stenosis of the renal arteries or hiatus hernia.
  • Finally, they must be evaluated by a dentist to treat oral problems.
Health personnel consisting of doctors, nurses, social workers, psychologists, etc., should be given to family members and patients all the necessary information for the proper handling of the various alterations present in this syndrome, not only at home, but also in school and in any social environment.
Published for educational purposes
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