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$Unique_ID{BRK03406}
$Pretitle{}
$Title{Aase Syndrome}
$Subject{Aase Syndrome Anemia-Congenital Triphalangeal Thumb Syndrome
Triphalangeal Thumb Syndrome}
$Volume{}
$Log{}
Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc.
106:
Aase Syndrome
** IMPORTANT **
It is possible that the main title of the article (Aase 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
Anemia-Congenital Triphalangeal Thumb Syndrome
Triphalangeal Thumb 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.
Aase syndrome is characterized by congenital anemia, three, rather than
the normal two, bones in the thumb (i.e., triphalangeal thumb), and various
other anatomic anomalies. Only boys are affected, and the disorder is
thought to be hereditary. The anemia often diminishes as the boy grows
older.
Symptoms
Features of Aase syndrome are present from birth. The child is pale, with a
mild growth deficiency. Laboratory studies reveal a deficiency of red and,
to varying degrees, white blood cells, due to underdevelopment of the bone
marrow. The liver and spleen may be enlarged.
The thumbs have three bones and therefore two joints, rather than the
normal two bones and single joint. The bones of the skull fuse later than in
normal children. Shoulders tend to be narrow.
There may be cardiac defects, especially an incomplete septum between the
right and left ventricles of the heart.
Causes
The causes of Aase syndrome are not known. It may be an X-linked recessive
disorder. (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. X-linked recessive disorders are
conditions which are coded on the X chromosome. Females have two X
chromosomes, but males have one X chromosome and one Y chromosome. Therefore
in females, disease traits on the X chromosome can be masked by the normal
gene on the other X chromosome. Since males have only one X chromosome, if
they inherit a gene for a disease present on the X, it will be expressed.
Men with X-linked disorders transmit the gene to all their daughters, who are
carriers, but never to their sons. Women who are carriers of an X-linked
disorder have a fifty percent risk of transmitting the carrier condition to
their daughters, and a fifty percent risk of transmitting the disease to
their sons.)
Therapies: Standard
Treatment for Aase Syndrome is supportive. The hypoplastic anemia in people
suffering from Aase Syndrome is usually treated by bone marrow
transplantation from HLA compatible siblings. In some cases, symptomatic
therapy with corticosteroids and blood transfusions is indicated.
Therapies: Investigational
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 Aase Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Heart, Lung and Blood Institute (NHLBI)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
Human Growth Foundation (HGF)
7777 Leesburg Pike
P.O. Box 3090
Falls Church, VA 22043
(703) 883-1773
(800) 451-6434
NIH/National Institute of Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For information on genetics and genetic counseling referrals, please
contact:
March of Dimes Birth Defects Foundation
P.O. Box 2000
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
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L.
Jones, M.D., W.B. Saunders, Co. 1988. Pp. 276-77.
MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. P. 439.