What are Williams syndrome and its causes?

Williams syndrome is a rare genetic disease characterized by neurodevelopmental disturbances, excessive sociability, and pixie-like facial features.

The Williams syndrome or syndrome Williams-Beuren is a rare genetic cause disease characterized by alterations in neurodevelopment and typical facial features that resemble those of a fairy. Socially, they are uninhibited, very enthusiastic, and excessively outgoing, which can cause them adult problems since they are vulnerable to deception or do not know how to react to them. 

This pathology was described for the first time in 1961 by Dr. Joseph Williams, a cardiology specialist from New Zealand. Together with his team, he described four cases of pediatric patients with a narrowed aortic heart valve, disability Mental and specific facial features standard as a broad forehead, wide-set eyes, thick lips, and wide nose base.

According to the scientific literature, the prevalence of this disease has increased considerably in the last twenty years, going from one case for every twenty thousand live newborns to the current reports that speak of one case for every eight thousand live newborns. 

This is fundamental because pediatricians and neonatologists now have a much more excellent knowledge of these genetically based diseases, the diagnosis of which has improved since the discovery of the human genome and the application of new DNA amplification and sequencing technologies in laboratories. Of molecular genetics.

The prognosis of Williams syndrome is variable and depends on the severity of the abnormalities and the degree of intellectual disability that the patient presents. Some affected reach adulthood and can live independently, finish 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 their child will be able to live independently with early stimulation and teaching of self-help skills and early insertion to individualized educational programs designed to enhance the cognitive and holistic development of the person and learn to self-regulate their excessive sociability.

Why does Williams syndrome occur?

Patients with Williams syndrome have a deletion (a type of mutation in which genes or genetic material are lost) of approximately 26 contiguous genes along the long arm of chromosome 7, specifically in chromosomal region 7q11.23. Among these lost is the elastin gene (ELN), which means that this protein is not produced in sufficient quantities.

Elastin is a protein found in the connective tissue, providing the ability to give the skin and blood vessels (arteries mainly). Therefore, those affected by Williams syndrome have only one gene (instead of two) for elastin, which causes the common heart and vascular pathologies in these patients.

Symptoms of Williams syndrome

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

Cardiovascular disorders

• Narrowing the aorta artery just above the aortic valve can range from mild to severe and lead to heart failure.
• Narrowing (stenosis) of the renal arteries, leading to increased blood pressure.
• Narrowing (stenosis) of the coronary arteries responsible for carrying blood to the heart can lead to sudden death.
• Hypertension

Gastrointestinal disorders

• Difficulty sucking from the moment of birth.
• Difficulty swallowing food.
• Hiatal hernia, gastroesophageal reflux, and recurrent vomiting.
• Slowness in the peristaltic movements of the intestine produces a tendency to constipation.
• Chronic and crampy abdominal pain (like cramps).
• Recurring abdominal pain due to stenosis of the arteries that carry blood to the intestine (mesenteric arteries).

Nervous system disorders

• Intellectual disability, the severity of which is of variable degree.
• Attention deficit and hyperactivity.
• Decreased muscle tone.
• Disability for visuospatial orientation can observe a complete object, recognize it, and call it by name. Still, they are unable to do the same if they are objects made up of several pieces.
• Difficulty coordinating fine motor movements such as drawing and writing.
• Gross motor problems such as difficulty going up and downstairs.
• Social disinhibition and verbiage (they speak a lot and very fast).

Facial alterations

• Flattened nasal bridge and upturned nose similar to those of a person with dwarfism.
• Wide mouth and thick lips.
• Pronounced nasolabial sulcus and epicanthus (inner crease of the upper eyelid).
• Teeth with little enamel, incomplete, or widely spaced teeth.

Other features

• Small genitalia.
• Delayed growth problems are gaining weight and height.
• Aged-looking skin.
• The hoarse tone of voice.
• High levels of calcium in the blood (hypercalcemia).
• Strabismus and hyperopia (difficulty seeing objects closely).
• Recurrent otitis media .
• Ease of learning the language.
• Great auditory memory and a particular interest in music.
• They tend to be left-handed and use the left eye.

Studies have shown that hormone-disrupting BPA may pose several health risks, including behavioral disorders, reproductive health concerns, and diabetes. These risks are higher for children exposed to the chemical in utero during their mother’s pregnancy. Along with personal care, Phthalate free baby products would be a considerable choice to keep your young ones protected.