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$Unique_ID{BRK04211}
$Pretitle{}
$Title{Seckel Syndrome}
$Subject{Seckel Syndrome Bird-Headed Dwarf of Seckel Bird-Headed Dwarfism
Seckel's Dwarfism Nanocephaly Nanocephalic Dwarfism Microcephalic Primordial
Dwarfism I Hallermann-Streiff-Francois Syndrome Fanconi's Anemia}
$Volume{}
$Log{}
Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
491:
Seckel Syndrome
** IMPORTANT **
It is possible the main title of the article (Seckel's Syndrome) is not
the name you expected. Please check the SYNONYMS listing on the next page
to find alternate names, disorder subdivisions, and related disorders
covered by this article.
Synonyms
Bird-Headed Dwarf of Seckel
Bird-Headed Dwarfism
Seckel's Dwarfism
Nanocephaly
Nanocephalic Dwarfism
Microcephalic Primordial Dwarfism I
Information on the following diseases can be found in the Related
Disorders section of this report:
Hallermann-Streiff-Francois Syndrome
Fanconi's Anemia
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 of this report.
Seckel Syndrome is a genetic form of dwarfism characterized by low birth
weight, a small head, large eyes, beak-like protrusion of the nose, narrow
face, and receding lower jaw. Also known as "Bird-Headed Dwarfism", this
disorder is often marked by abnormalities in skin pigmentation. Various
congenital malformations can be accompanied by dental abnormalities and
mental retardation.
Symptoms
Seckel Syndrome, also known as "Bird-Headed Dwarfism", is characterized by
low birth weight, dwarfism, and congenital malformations such as dislocation
of the hips, clubfoot, abnormally small kidneys, and deformity of the liver.
Mental retardation and an abnormally small head with a receding forehead,
narrow face, large eyes, beak-like protrusion of the nose, and receding lower
jaw are sometimes accompanied by dental alterations. Hypoplastic
(underdeveloped) tooth enamel, a high arched roof of the mouth (palate), and
missing or atrophic teeth tend to occur in approximately sixty percent of
cases.
Causes
Seckel Syndrome ("Bird-Headed Dwarfism") is inherited as an autosomal
recessive trait. (Human traits including the classic genetic diseases, are
the product of the interaction of two genes for that condition, one received
from the father and one from the mother. In recessive disorders, the
condition does not appear unless a person inherits the same defective gene
from each parent. If one receives one normal gene and one gene for the
disease, the person will be a carrier for the disease, but usually will show
no symptoms. The risk of transmitting the disease to the children of a
couple, both of whom are carriers for a recessive disorder, is twenty-five
percent. Fifty percent of their children will be carriers, but healthy as
described above. Twenty-five percent of their children will receive both
normal genes, one from each parent and will be genetically normal.)
Affected Population
Seckel Syndrome ("Bird-Headed Dwarfism") occurs at a rate of approximately
one in 10,000 live births. According to one medical study, approximately
sixty cases had been identified between 1960 (when this disorder was first
identified) and 1982. Seckel Syndrome affects males and females in equal
numbers, and tends to affect more than one person in a family.
Related Disorders
Symptoms of the following disorders can be similar to those of Seckel
Syndrome (Bird-Headed Dwarfism). Comparisons may be useful for a
differential diagnosis:
Hallermann-Streiff-Francois Syndrome, also known as mandibulo-oculofacial
dyscephaly, is a syndrome of bony abnormalities of the roof of the skull
(calvaria), face and jaw. Additionally, patients have a bird-like face with
a narrow curved nose, and multiple eye defects including abnormally small
eyeballs and corneas, and cataracts. Hair can be thinned or absent, and
eyebrows may be absent or underdeveloped. Premature aging (progeria) and
atrophy of the skin, particularly the elastic tissue, may also be present.
(For more information on this disorder, choose "Hallermann" as your search
term in the Rare Disease Database.)
Fanconi's Anemia is a rare form of familial aplastic anemia found chiefly
in children of Mediterranean ancestry. It is characterized by bone
abnormalities, an abnormally small head (microcephaly), underdeveloped
genitalia, and brown pigmentation of the skin. Complications can include
infections such as pneumonia and meningitis, excessive bleeding (hemorrhage),
and leukemia. Although other symptoms are similar to those of Fanconi's
Anemia, patients with Seckel Syndrome can be distinguished by the presence of
a receding forehead and chin, large eyes, and a large beaked nose. (For more
information on this disorder, choose "Fanconi" as your search term in the
Rare Disease Database).
Therapies: Standard
Treatment of Seckel Syndrome ("Bird-Headed Dwarfism") is symptomatic and
supportive. Genetic counseling and service agencies which benefit physically
disabled and/or mentally retarded individuals and their families can be
helpful.
Therapies: Investigational
This disease entry is based upon medical information available through June
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 this Seckel Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
International Center for Skeletal Dysplasia
St. Joseph Hospital
7620 York Road
Towson, MD 21204
(301) 337-1250
The Magic Foundation
1327 N. Harlem Ave.
Oak Park, IL 60302
(708) 383-0808
Human Growth Foundation (HGF)
7777 Leesburg Pike
P.O. Box 3090
Falls Church, VA 22043
(703) 883-1773
(800) 451-6434
Little People of America
P.O. Box 633
San Bruno, CA 94066
(415) 589-0695
Parents of Dwarfed Children
11524 Colt Terrace
Silver Spring, MD 20902
Association for Research into Restricted Growth
2 Mount Court
81 Central Hill
London SE 19 1 BS
England
01-678-2984
NIH/National Child Health & Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For genetic information and genetic counseling referrals, please contact:
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
This Rare Disease Database entry is based upon outlines prepared by medical
and dental students (1984-1986) at the Medical College of Virginia for their
course in human genetics, and the following articles:
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. P. 859.
PIGMENTARY CHANGES IN SECKEL'S SYNDROME: A. Fathizadeh, et al.; J Am Acad
Dermatol (July 1979, issue 1(1)). Pp. 52-54.
SECKEL SYNDROME: AN OVERDIAGNOSED SYNDROME: E. Thompson, et al.; J Med
Genet (June 1985, issue 22(3)). Pp. 192-201.
MICROCEPHALY, MICROGNATHIA, AND BIRD-HEADED DWARFISM: PRENATAL DIAGNOSIS
OF A SECKEL-LIKE SYNDROME: D.F. Majoor-Krakauer, et al.; Am J Med Genet (May
1987, issue 27(1)). Pp. 183-188.