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Q: "Elven Face"?? ( Answered 5 out of 5 stars,   2 Comments )
Subject: "Elven Face"??
Category: Health > Conditions and Diseases
Asked by: missy-ga
List Price: $10.00
Posted: 22 Sep 2002 10:31 PDT
Expires: 22 Oct 2002 10:31 PDT
Question ID: 67840
A pal of mine was telling our StarCraft/Antioch Chronicles fan forum
about a disorder he learned about in school.  His teacher rather
mumbles, so he's not sure if she said it's called Willians Syndrome or
Williams Syndrome.  She gave another term for it - "elven face".  At
least, he thinks that's what it's called - English is not his mother
tongue, he translated what his teacher said to that.

Apparently, the disorder is marked by (to quote my pal):

- A strong vocabularic memory;

- Very good musical hearing (the diseased can play almost any music
after hearing it just one time);

- A soft voice, very good for singing;

- Strong social language (the person is very talkative and tends to be
very likeable; this is called "pub-like personality");

- A small deformity in the eyes, which have small lines coming from
the center; this shape often is compared to the one of the stars;

- A small mental retardment (so the person isn't very good with
complex things, like mechanical apparatus).

So...which is it?  Is it Willians or Williams Syndrome?  My own
searches keep leading me to Williams Syndrome, but I haven't come
across any references to a deformity of the eyes, so I'm unsure.

I don't need a lot of details, just confirmation of the spelling of
the syndrome, and links to pages which provide solid information about
the syndrome.
Subject: Re: "Elven Face"??
Answered By: luciaphile-ga on 22 Sep 2002 11:57 PDT
Rated:5 out of 5 stars
Hi missy-ga, 

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."

sensitive hearing

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
debbi-ga below)

NINDS Williams Syndrome Information Page

See also:
NCBI Genes and Disease Williams Syndrome

MEDLINEplus Medical Encyclopedia: Williams Syndrome

Williams Syndrome Association

Search strategy:
Began with finding appropriate MeSH (medical subject heading) term on
Medline.  Then went to standard medical dictionaries and print
reference tools.
Google search:

"elfin facies"
"williams syndrome"

I hope that answers your question.  

missy-ga rated this answer:5 out of 5 stars
Splendidly detailed!  Thank you, this is a help to our discussion elsewhere.


Subject: Re: "Elven Face"??
From: debbi-ga on 22 Sep 2002 10:43 PDT
It is called "Williams Syndrome" and it's a rare congenital disorder.
It is caused by chromosome abnormalities much like Down's syndrome.
The elvin-face term is most likely as the disorder has "elfin-like"
facial characteristics.
Subject: Re: "Elven Face"??
From: voila-ga on 22 Sep 2002 13:12 PDT
I remember this 60 Minutes segment on Williams syndrome -- Morley
Safer was the reporter, if memory serves.  Seems like one of the kids
being interviewed was wearing an ascot ala Noel Coward, but I could
have been hallucinating at the time -- don't hold me to that tidbit. 
You can check here for more information:

And here's a transcript of a piece that aired on PBS with Alan Alda:

Also, since this is another face of autism, here's the Center for the
Study of Autism website:

Would be glad to help you further if you require.  It's a fascinating

Best regards,

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