This syndrome, sometimes called Williams-Beuren syndrome, was described in the 1960s, first in 1961 by J.C.P. Williams, a New Zealand cardiologist, and then in 1962 by A.P. Buerens, a German cardiologist. It is, strictly speaking, not a single gene mutation but instead a deletion syndrome in which a portion of the cellular DNA is missing. It is included in this database because in most individuals the loss includes the ELN gene.
This is a multisystem condition in which the cardiovascular and brain are most conspicuously involved but there is considerably variation in the clinical picture. Systemic hypertension, elevated calcium, and small physical size are often evident at birth. The large blood vessels such as those of the lung and the aorta frequently have thickened walls leading to a restriction to blood flow. Many infants are small and growth retardation may persist for up to 4 years, often accompanied by failure to thrive. Some catch-up in growth follows and there may be a pubertal growth spurt but most adults remain below the third centile. Low levels of thyroid hormone are often found.
The appearance of the face and head can be distinctive. The face is long and narrow, the mouth is large, the jaw small, the earlobes are large, and the midface is flat. The teeth are usually small and widely spaced. Young children are often over-sensitive to moderate sound levels but many adults later have evidence of hearing loss. The voice may be hoarse due to vocal cord malfunction.
Children with William syndrome are overly friendly and empathetic. However, they are also anxious and have various cognitive difficulties such as attention deficit disorder and visualization of spatial dimensions. Adults generally have difficulties finding employment or living alone. However, normal intelligence is found among many individuals as well.
Many individuals have blue eyes and are farsighted. Crossing of the eyes (strabismus) is common but vision is likely near normal.
This is a condition resulting from the loss of DNA, usually including the ELN gene. It mainly occurs sporadically (without a family history) but parent to child transmission and affected siblings have been reported. The risk of recurrence seems to be low.This is a condition resulting from the loss of DNA, usually including the ELN gene. It usually occurs sporadically (without a family history) but parent to child transmission and affected siblings have been reported. The risk of recurrence seems to be low.
Williams syndrome can be diagnosed by pediatricians at birth due to the small size, facial appearance, elevation of blood pressure, and high levels of calcium in the blood. The ophthalmologist may note the blue eyes with a lacey appearance of the iris as well as increased tortuosity of the blood vessels in the retina inside the eye. Surgery and/or glasses can often correct the strabismus (crossing of the eyes). Endocrinologists, orthopedists, and neurologists often help with the diagnosis.
There is no evidence that lifespan is shortened provided proper treatment is available. The hypertension, low thyroid hormone levels, and the elevated blood calcium levels may be managed medically.
Early psychological evaluations and interventions are recommended for speech, behavioral, and physical therapies. Special education may be necessary. Vascular surgery can be corrective for severe constriction of selected blood vessels and heart valve reconstruction.