Williams-beuren syndrome Q93.8;

The first descriptors were the British cardiologist J. C. P. Williams and the Göttingen cardiologist Alois J. Beuren. First descriptions 1961/1962.

Rare, globally occurring, genetic developmental disorder with vascular, osseous, ophthalmological, endocrinological disorders; with psychomotor retardation, facial dysmorphia and a specific cognitive and behavioural profile (Kruszka P et al. 2018).

Prevalence at birth: 1:10/20.000. Evidence is also available for incomplete clinical pictures (Twite MD et al. 2019).

Manifestation age: newborn, prenatal (!)

WBS in infancy: Children are conspicuous early in infancy by frequent crying, feeding and sleeping problems, constipation.

Facial changes: in infancy, characteristic facial features: flat bridge of the nose, bulbous tip of the nose, large mouth with widely inverted lower lip, chubby cheeks, periorbital edema, epicanthus and often a star-shaped iris pattern. With increasing age, the face becomes narrower and coarser (for illustration see below: Kruszka P et al. 2018)

Cognitive profile: Affected children are extremely friendly and develop good contact with other people; well-developed language skills; deficits in spatial vision;

Ears: sensitivity to noise, hearing disorders, often middle ear infections (otitis media)

Teeth: frequent tooth loss, enamel hypoplasia.

Eyes: about 40% of children have strabismus and/or refractive anomalies of the eyes

Skeleton: Slender, elongated rib cage, drooping shoulders, slightly short (about 10 cm shorter than the population average); inwardly bent big toe (conspicuous in adults.

Laboratory: Hypercalcemia; danger of nephrocalcinosis.

Intestines: Not infrequently, diverticula of the colon are detected.

Vascular system: 80% of WBS patients: supravalvular aortic valve stenosis (SVAS); furthermore pulmonary stenosis; renal artery stenosis (consecutive: renal arterial hypertension) (Collins RT 2018).

Molecular cytogenetic analysis. By means of the FISH test with elastin probe / chromosome 7q11.23 specific probe, the relevant genetic peculiarity can be detected on chromosome 7.

Vascular malformations require regular checks and targeted treatment. The treatment of (renal) arterial hypertension consists of medication, a healthy diet and a healthy lifestyle. Low calcium diet. A possible decision to surgically correct a renal artery stenosis must take into account the fact that in WS the vessel walls are altered globally.

Adult patients can only rarely lead an independent life.

1. Berdon WE et al (2011) Williams-Beuren syndrome: historical aspects. In: Pediatric Radiology 41: 262-266,
2. Beuren, AJ et al (1962) Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 26: 1235-1240
3. Collins RT (2018) Cardiovascular disease in Williams syndrome. Curr Opin Pediatr 30:609-615.
4. Kruszka P et al (2018) Williams-Beuren syndrome in various populations. At J Med Genet A 176:1128-1136.
5. Twite MD et al (2019) Williams syndrome. Paediatr Anaesth 29:483-490.
6. Williams JC et al (1961) Supravalvular aortic stenosis. Circulation 24: 1311-1318.https://pubmed.ncbi.nlm.nih.gov/30811742/?from_term=Williams-Beuren+syndrome&from_pos=4