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$Unique_ID{BRK03405}
$Pretitle{}
$Title{Aarskog Syndrome}
$Subject{Aarskog Syndrome Faciogenital Dysplasia Faciodigitogenital Syndrome
FDGY AAS Juberg-Hayword Syndrome Nager Acrofacial Dysostosis
Oral-Facial-Digital Syndrome}
$Volume{}
$Log{}
Copyright (C) 1989, 1990 National Organization for Rare Disorders, Inc.
615:
Aarskog Syndrome
** IMPORTANT **
It is possible that the main title of the article (Aarskog 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
Faciogenital Dysplasia
Faciodigitogenital Syndrome
FDGY
AAS
Information on the following diseases can be found in the Related
Disorders section of this report:
Juberg-Hayword Syndrome
Nager Acrofacial Dysostosis
Oral-Facial-Digital 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 of this report.
Aarskog Syndrome is a very rare genetic disorder marked by distinctive
structural abnormalities. Major symptoms may include stunted growth, broad
facial features, short broad hands and feet, genital abnormalities and mild
mental retardation.
Symptoms
Aarskog Syndrome is characterized by short stature. Very widely spaced eyes
(hypertelorism) with drooping eyelids (ptosis), and a short broad nose are
facial features of this disorder. Low-set floppy ears, short broad hands
with stubby fingers and very extendible joints, wide flat feet with bulbous
toes, and a sunken chest (pectus excavatum) are also present. Genital
abnormalities such as a scrotal fold extending dorsally around the base of
the penis (shawl scrotum), and undescended testicles (cryptorchidism) occur.
Hernias located in the groin area (inguinal), cleft lip and teeth deformities
as well as mild mental retardation may also be present.
Causes
Aarskog Syndrome is thought to be a sex-linked dominant disorder. The
genetic defect is located on the Xq13 chromosome. (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 X-linked
dominant disorders the female with only one X chromosome affected will
develop the disease. However, the affected male always has a more severe
condition.)
Affected Population
Aarskog Syndrome affects males more often than females, and the disorder is
more serious in males.
Related Disorders
Symptoms of the following disorders can be similar to those of Aarskog
Syndrome. Comparisons may be useful for a differential diagnosis:
Juberg-Hayword Syndrome (Orocraniodigital Syndrome) is a rare hereditary
disorder characterized by cleft lip and palate, a smaller than normal sized
head, deformities of the thumbs and toes, and growth hormone deficiency
resulting in short stature.
Nager Acrofacial Dysostosis (Mandibulofacial Dysostosis) is a rare
hereditary disorder marked by abnormal facial development. Cleft lip and
palate, defective development of bones of the jaw and arms, and smaller than
normal thumbs are characteristics of this disorder.
Oral-Facial-Digital Syndrome (OFD) is a genetic disorder marked by
distinctive structural abnormalities. Major symptoms include many episodic
neuromuscular disturbances, congenital malformations such as cleft palate,
other facial deformities, malformation of the hands and feet, and shortened
limbs. Mental retardation also occurs but varies in degree from mild to
severe. (For more information on this disorder, choose "OFD" as your search
term in the Rare Disease Database.
Therapies: Standard
Treatment of Aarskog Syndrome may include surgery to correct hernias,
undescended testicles and cleft lip and palate. Genetic counseling is
recommended for patients and their families. Other treatment is symptomatic
and supportive.
Therapies: Investigational
Researchers are trying to locate the gene that causes Aarskog Syndrome.
Families with this disorder having two generations of affected individuals
should contact:
Dr. Richard A. Lewis, Associate Professor
Depts. of Ophthalmology, Medicine, Pediatrics, and the Institute for
Molecular Genetics
Baylor College of Medicine
6501 Fanin, NC 206
Houston, TX 77030
(713) 798-3030
This disease entry is based upon medical information available through
January 1990. 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 Aarskog Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Aarskog Syndrome Support Group
62 Robin Hill Lane
Levittown, PA 10955
(215) 943-7131
NIH/National Institute of Child Health & Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
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, 7th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp. 3, 1349.
ANOMALOUS CEREBRAL VENOUS DRAINAGE IN AARSKOG SYNDROME: P. van den
Bergh, et al.; Clin Genet (March 1984, issue 25(3)). Pp. 288-294.
AUTOSOMAL DOMINANT INHERITANCE OF THE AARSKOG SYNDROME: R.E. Grier, et
al.; Am J Med Genet (May 1983, issue 15(1)). Pp. 39-46.
THE AARSKOG (FACIO-DIGITAL-GENITAL) SYNDROME IN SOUTH AFRICA. A REPORT
OF THREE FAMILIES: M. de Saxe, et al.; S Afr Med J (February 1984, issue 65
8)). Pp. 299-303.