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$Unique_ID{BRK03789}
$Pretitle{}
$Title{Greig Cephalopolysyndactyly Syndrome}
$Subject{Greig Cephalopolysyndactyly Syndrome GCPS Greig Syndrome Greig
Polysyndactyly Craniofacial Dysmorphism Syndrome Apert Syndrome}
$Volume{}
$Log{}
Copyright (C) 1989 National Organization for Rare Disorders, Inc.
697:
Greig Cephalopolysyndactyly Syndrome
** IMPORTANT **
It is possible that the main title of the article (Greig
Cephalopolysyndactyly 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
GCPS
Greig Syndrome
Greig Polysyndactyly Craniofacial Dysmorphism Syndrome
Information on the following diseases can be found in the Related
Disorders section of this report:
Apert Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for e
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 of this report.
Greig Cephalopolysyndactyly is a rare genetic disorder characterized by
an enlarged head, unusual facial features and multiple physical deformities
of the hands and feet.
Symptoms
Greig Cephalopolysyndactyly Syndrome is a genetic disorder characterized by an
abnormally large head (macrocephaly), and an unusual facial appearance with a
high prominent forehead, broad nose and widely spaced eyes (hypertelorism).
Extra fingers and toes (polysyndactyly), enlarged thumbs and great toes, and
fusing or webbing of the fingers and toes (syndactyly) also usually occur.
Occasionally there can be a permanent flexing of the fingers and toes
(campodactyly), an increase of fluid on the brain (hydrocephalus) and mild
retardation.
Causes
Greig Cephalopolysyndactyly Syndrome is believed to be inherited as an
autosomal dominant genetic trait. The location of the defective gene in
Greig Cephalopolysyndactyly Syndrome has been established to be on the short
arm of chromosome 7 (7p13). Human traits, including the classic genetic
diseases, are the product of the interaction of two genes, one received from
the father and one from the mother. In dominant disorders a single copy of
the disease gene (received from either the mother or father) will be
expressed "dominating" the other normal gene and resulting in appearance of
the disease. The risk of transmitting the disorder from affected parent to
offspring is fifty percent for each pregnancy regardless of the sex of the
resulting child.
Affected Population
Greig Cephalopolysyndactyly Syndrome is a very rare disorder that affects
males and females in equal numbers.
Related Disorders
Symptoms of the following disorder can be similar to those of Greig
Cephalopolysyndactyly. Comparisons may be useful for a differential
diagnosis:
Apert Syndrome is an autosomal dominant inherited disorder characterized
by fused or webbed fingers and toes (syndactyly), a pointed head (acrocephaly
or oxycephaly), other skeletal and facial abnormalities, and mental
retardation. (For more information on this disorder, choose "Apert" as your
search term in the Rare Disease Database).
Therapies: Standard
Treatment of Greig Cephalopolysyndactyly Syndrome may include surgery for the
webbing of the fingers and toes. Genetic counseling may be of benefit for
patients and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through
November 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 Greig Cephalopolysyndactyly Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Forward Face
560 First Ave.
New York, NY 10016
(212) 263-5205
(800) 422-FACE
National Craniofacial Foundation
3100 Carlisle Street, Suite 215
Dallas, TX 75204
1-800-535-3643
Society for the Rehabilitation of the Facially Disfigured, Inc.
550 First Avenue
Ney York, NY 10016
(212) 340-5400
FACES
National Association for the Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
(615) 266-1632
Let's Face It
Box 711
Concord, MA 01742
(508) 371-3186
National Institute of Child Health & Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 656-7540
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor a. McKusick; Johns Hopkins
University Press, 1986. Pp. 617.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L.
Jones, M.D.; W.B. Saunders Co., 1988. Pp. 377.
GREIG CEPHALOPOLSYNDACTYLY: REPORT OF 13 AFFECTED INDIVIDUALS IN THREE
FAMILIES. M. Baraiter et al.; CLIN GENET, (October 1983; issue 24 (4)). Pp.
257-265.
CHROMOSOMAL LOCALISATION OF A DEVELOPMENTAL GENE IN MAN: DIRECT DNA
ANALYSIS DEMONSTRATES THAT GREIG CEPHALOPOLYSYNDACTYLY MAPS TO 7p13 L.
Brueton et al.; AM J MED GENET, (December 1988; issue 31 (4)). Pp. 799-804.
THE GREIG CEPHALOPOLYSYNDACTYLY SYNDROME: REPORT OF A FAMILY AND REVIEW
OF THE LITERATURE. T. Gallop et al.; AM J MED GENET, (September 1985; issue
22 (1)). Pp. 59-68.
EVALUATION OF A UNIFORM OPERATIVE TECHNIQUE TO TREAT SYNDACTYLY. D.
Keret et al.; J HAND SURG, (September 1987; issue 12 (5 Pt 1)). Pp. 727-729.