Thanks for your question.
The disorder you're referring to is generally called Williams
Syndrome. It is also referred to as Elfin Facies Syndrome,
Williams-Beuren Syndrome, or Williams Contiguous Gene Syndrome. I
looked in a variety of reference sources and found no mention of
anything remotely like "Willian's Syndrome."
Let's start with a few definitions:
According to the "Dictionary of Medical Eponyms," it is named after
J.C.P. Williams, a New Zealand physician and is "Infantile elfin
facies with hypercalcemia and supraventricular aortic stenosis."
Dictionary of Medical Eponyms, edited by B.G. Firkin and J.A.
Whitworth. Parthenon Publishing Group, 2nd edition, 1996, p. 433.
Alois Beuren was a German cardiologist who reported similar findings
around approximately the same time.
Stedman's Medical Dictionary, Lippincott Williams & Wilkins, 27th
edition, 2000, p. 1748
Another medical dictionary defines it as "supravalvular aortic
stenosis, mental retardation, elfin facies, and transient
hypercalcemia in infancy."
Dorland's Illustrated Medical Dictionary, W.B. Saunders Company, 29th
edition, 2000, p. 1771
The National Library of Medicine calls it: "A contiguous gene syndrome
associated with a heterozygous microdeletion in the chromosomal region
7q11.23, encompassing the elastin gene. Clinical manifestations
include supravalvular aortic stenosis, mental retardation, elfin
facies, impaired visuospatial constructive abilities, and transient
hypercalcemia in infancy. The condition affects both sexes, with onset
at birth or in early infancy.
National Library of Medicine Medical Subject Headings
I'll translate some of those words into more understandable English.
Hypercalcemia is an excess of calcium in the blood (Dorland's).
Aortic stenosis is "the constriction in the opening of the aortic
valve or of the supravalvular or subvalvular regions," (NLM)
Visuospatial refers to the "ability to understand visual
representations and their spatial relationships," (Dorland's)
Onto some more specific material. The "Physicians' Guide to Rare
Diseases," lists the following as characteristic symptoms for the
elfin features, particularly at birth "small head, broad forehead,
puffiness around the eyes, depressed nasal bridge, wide mouth, and
full lips." Children afflicted with the syndrome who have blue or
green eyes "may have a starlike pattern in the iris."
delayed motor development and gross and fine motor skills
75% chance of heart disorders (including aortic stenosis). There is
also a chance of umbilical or inguinal hernias.
"Friendly and talkative personality"
possible mild mental retardation, although intelligence may be average
but coupled with learning disabilities.
good memory is possible but attention-deficit disorders.
Physician's Guide to Rare Diseases, edited by Jess G. Thoene, Dowden
Publishing Co., Inc. 2nd edition, 1995, pp. 162-163
There is also a fairly succinct description of Williams Syndrome from
the National Institute of Neurological Disorders and Stroke (cited by
NINDS Williams Syndrome Information Page
NCBI Genes and Disease Williams Syndrome
MEDLINEplus Medical Encyclopedia: Williams Syndrome
Williams Syndrome Association
Began with finding appropriate MeSH (medical subject heading) term on
Medline. Then went to standard medical dictionaries and print
I hope that answers your question.