WILLIAM’S SYNDROME

INTRODUCTION:-Williams’s syndrome is a rare congenital disorder characterized by physical and development problems. It is characterized by mental retardation, facial abnormalities and emotional instability.

CAUSES:-William’s syndrome is caused by the deletion of genetic material from the region q11.23 of chromosome 7.The deleted region includes more than 25 genes, and researchers believe that the loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams’s syndrome.

SYMPTOMS:-Typical facial appearance (elfin facies) is the most characteristic feature of this syndrome. Delayed growth, feeding difficulty, failure to thrive, colic, otitis media, and mental retardation are the early symptoms in infancy. Developmental disabilities and cardiovascular complications become apparent later in childhood. Hypertension, gastrointestinal problems, and genitourinary disorders usually complicate adult development. The phenotype may overlap with hypercalcemia with or without mental retardation and supravalvular aortic stenosis with or without mental retardation.

DIAGNOSIS:-Tests for William’s syndrome:

Blood pressure check

Blood test for missing chromosome (FISH test)

Echocardiography combined with Doppler ultrasound

Kidney ultrasound

TREATMENT:-There is no cure for Williams’s syndrome. Suggestions include avoiding taking extra calcium and vitamin D, and treating high levels of blood calcium, if present. Blood vessel narrowing can be a significant health problem as well, and is treated on an individual basis. Physical therapy is helpful to patients with joint stiffness. Developmental and speech therapy can also help these children. Other treatments are based on a patient's particular symptoms.

PREVENTION:-There is no known way to prevent the genetic problem that causes Williams syndrome. Prenatal testing is available for couples with a family history of Williams’s syndrome who wish to conceive.