Knowra Williams syndrome Williams syndrome Williams syndrome is a rare genetic disorder caused by a deletion on chromosome 7q11.23. It can affect cardiovascular health, development, facial appearance, and social and cognitive traits.
7q11.23 : A region on the long arm of chromosome 7 that contains genes deleted in Williams syndrome. Williams syndrome usually results from a deletion in this specific chromosomal region.
Supravalvular aortic stenosis : A narrowing of the aorta just above the aortic valve. It is a characteristic cardiovascular complication associated with loss of one ELN copy.
Echocardiography : An imaging test that uses ultrasound to show the heart and blood flow. It helps assess aortic narrowing and other cardiac findings in Williams syndrome.
22q11.2 deletion syndrome : A genetic disorder caused by deletion of a region on chromosome 22, with variable cardiac, immune, and developmental effects. Both involve recurrent chromosomal deletions, but differ in region, typical features, and clinical risks.
ELN : A gene that encodes elastin, a protein that gives stretch and resilience to connective tissues. Deletion of one ELN copy contributes to the arterial narrowing common in Williams syndrome.
Elastin : A connective-tissue protein that allows arteries, skin, and other tissues to stretch and recoil. Reduced elastin production helps account for arterial stiffness and narrowing in the syndrome.
Genetic counseling : A clinical service that explains genetic conditions, testing, inheritance, and reproductive implications. Counseling clarifies the usually sporadic deletion and the small recurrence risk for families.
Noonan syndrome : A genetic disorder commonly associated with distinctive facial features, short stature, and congenital heart defects. Some outward features overlap, but Noonan syndrome has different genetic causes and cardiovascular patterns.
Gene dosage : The amount of a gene or its product available in a cell. The deletion reduces the dosage of multiple genes, not just ELN.
LIMK1 : A gene involved in regulating the actin cytoskeleton and neuronal development. Its deletion has been studied for possible links to visuospatial difficulties.
Show all 20