$Unique_ID{BRK03834}
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$Title{Hutchinson-Gilford Syndrome}
$Subject{Hutchinson-Gilford Syndrome Gilford's Syndrome Premature Senility
Syndrome Progeria (Childhood) Souques-Charcot Syndrome }
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Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc.

130:
Hutchinson-Gilford Syndrome

** IMPORTANT **
It is possible that the main title of the article (Hutchinson-Gilford
Syndrome) is not the name you expected.  Please check the SYNONYM listing to
find the alternate names and disorder subdivisions covered by this article.

Synonyms

     Gilford's Syndrome
     Premature Senility Syndrome
     Progeria (Childhood)
     Souques-Charcot Syndrome

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section.


Hutchinson-Gilford syndrome, or progeria of childhood, is characterized
by dwarfism and extremely rapid ageing.  The child remains very small and
sexually infantile, but has grey hair, a wizened face, various characteristic
facial features, and many of the physical signs of old age.  The syndrome is
very rare.  Boys and girls are affected equally, and usually survive into
their teens.

Symptoms

The child with Hutchinson-Gilford Syndrome appears normal at birth, but stops
growing at a normal rate around the age of one.  Most children never exceed
the height of an average five-year old during their lifetime.

Several facial features are typical for the disorder.  The head is
relatively large although the face tends to be small.  The nose is sharp and
beaklike, the chin recedes, and the eyes protrude.  The eyes may have bluish
Sclerae (white region of the eye) and cloudy corneas.  Eyebrows, lashes, and
head hair may be absent revealing prominent veins on the scalp, or the hair
may turn grey.  Because of the small size of the jaw, the teeth are often
crowded and irregular.

The skin is dry and thin like parchment; underneath, sparseness of fat
makes the face and body look old and wrinkled.  Often, the skin has a
brownish coloration.

The chest is narrow and the abdomen protrudes.  The spleen may be
enlarged.  The sex organs remain undeveloped.  Sometimes, there are hernias in
the umbilical or inguinal (groin) areas.

Physiologically, there are signs of old age as well.  The long bones
(i.e., those in the limbs) are decalcified and thin.  In adolescence, the
patient becomes susceptible to strokes, atherosclerosis, occlusion of the
coronary artery, and angina.  These and assorted other complications are
associated with high levels of lipoprotein (protein molecules carrying
various kinds of lipids, including cholesterol) in the blood.  Very rarely,
amino acids (protein building blocks) are lost in the urine.  Life
threatening episodes may occur as a result of heart disease or stroke.
Intelligence is normal.

Causes

The causes of Hutchinson-Gilford syndrome are not understood.  There seems to
be no familial pattern.  Some studies vaguely implicate high paternal age,
but this is not conclusive.

Affected Population

Hutchinson-Gilford syndrome is very rare; it affects males and females
equally.

Related Disorders

An adult form of progeria is called Werner Syndrome.  Gottron syndrome is a
milder form of progeria involving only the hands and feet, which remain
unusually small and age much more rapidly than the rest of the body.  (For
more information, see choose Werner and Gottron as your search terms in the
Rare Disease Database.)

Therapies:  Standard

Treatment of Hutchinson-Gilford Syndrome is supportive.  Symptomatic therapy
of heart conditions, stroke, etc., may be necessary.

Therapies:  Investigational

This disease entry is based upon medical information available through July
1989.  Since NORD's resources are limited, it is not possible to keep every
entry in the Rare Disease Database completely current and accurate.  Please
check with the agencies listed in the Resources section for the most current
information about this disorder.

Resources

For more information on Hutchinson-Gilford Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     Progeria Foundation
     3 Styvesant Oval, 9A
     New York, NY  10009

     The Progeria International Registry (PIR)
     New York State Institute for Basic Research in Developmental Disabilities
     1050 Forest Hill Road
     Staten Island, NY  10304
     (718) 494-0600

     NIH/National Institute of Child Health and Human Development (NICHHD)
     9000 Rockville Pike
     Bethesda, MD  20892
     (301) 496-5133

     Sunshine Foundation
     4010 Levick St.
     Philadelphia, PA  19135
     The Sunshine Foundation raises funds to bring all children with Progeria
     together once each year so that medical researchers can study their
     progress while the children socialize in a vacation atmosphere.

References

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  P. 630.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L.
Jones, M.D., W.B. Saunders, Co. 1988.  Pp. 118-9.