William syndrome .

William syndrome

Results from a deletion of a region of chromosome 7q11.23, containing the elastin gene.

Manifestations and picture:

·       Affected individuals often present with poor feeding and hypercalcaemia as a neonate (resolve in 2nd year).

·      Elfin facies (full cheeks, full lower lip (fish-shaped), long philtrum) sometimes a stellate iris.

·       Medial eyebrow flare, Depressed nasal bridge, Epicanthic folds

·    Cardiac: The elastin deletion causes arteriopathy, which can affect any artery, but the characteristic lesion is supravalvular aortic stenosis, peripheral Pulmonary artery stenosis.

·       Child: outgoing (cocktail party speech, Friendly manner), adult: withdrawn

·       Mild-to-moderate learning difficulties

·       Short stature

·       Hypoplastic nails

·       Skeletal: Scoliosis, kyphosis, Joint limitations

·       Renal: renal artery stenosis, Nephrocalcinosis, Pelvic kidney, Urethral stenosis

The American Academy of Pediatrics recommends annual cardiology evaluations for individuals with WS.

Other recommended assessments include ophthalmologic evaluations, an examination for inguinal hernia, objective hearing assessment, blood-pressure measurement, developmental and growth evaluation, orthopedic assessments on joints and muscle tone, and ongoing feeding and dietary assessments to manage constipation and urinary problems.

Avoidance of extra calcium and vitamin D, and treating high levels of blood calcium.

Behavioral treatment, Developmental and speech therapy can also helpful.