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$Unique_ID{BRK04230}
$Pretitle{}
$Title{Split-Hand Deformity}
$Subject{Split-Hand Deformity Karsch-Neugebauer Syndrome Ectrodactyly Lobster
Claw Deformity Ectrodactilia Ektrodactylie Electrodactyly-Ectodermal Dysplasia
Clefting Syndrome }
$Volume{}
$Log{}
Copyright (C) 1990 National Organization for Rare Disorders, Inc.
693:
Split-Hand Deformity
** IMPORTANT **
It is possible that the main title of the article (Split-Hand Deformity)
is not the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Karsch-Neugebauer Syndrome
Ectrodactyly
Lobster Claw Deformity
Ectrodactilia
Ektrodactylie
Information on the following diseases can be found in the Related
Disorders section of this report:
Electrodactyly-Ectodermal Dysplasia Clefting 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.
Split-hand deformity is a genetic disorder characterized by the absence
of fingers or parts of fingers, commonly occurring with a cleft of the hand.
This combination often gives the hand a clawlike appearance. When a cleft
does occur, it usually affects both hands and both feet.
There are many types and combinations of deformities that appear in
Split-hand deformity. It is believed that they are all the result of a
common genetic defect that ranges widely in severity.
Symptoms
Typical cases of split-hand deformity usually appear in two forms. In the
lobster claw variety there is usually an absence of the third digit. Located
in the position of the third digit is a cone-shaped cleft that tapers in
toward the wrist and divides the hand into two parts. The resulting deformed
hand resembles a lobster claw. The remaining fingers or parts of fingers on
each side of the cleft are often joined or webbed together. When a cleft
occurs, it is usually present in both hands. A similar deformity commonly
occurs in the feet.
In the second variety of split-hand deformity, there is the presence of
only the fifth digit (monodactyly) and no cleft. There are varying levels of
severity between these types, and cases of each type occasionally are found
in the same family.
Individuals with split-hand deformity usually have normal life spans and
intelligence. Difficulties in physical functioning are related to the
severity of the deformity.
Causes
Split-hand deformity is an autosomal dominant inherited trait. 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.
Occasionally split-hand deformity will skip a generation, and affected
offspring will be born to unaffected parents.
Affected Population
Split-hand deformity affects males and females equally. Frequency is
estimated at one out of 90,000 births.
Related Disorders
Symptoms of the following disorders can be similar to those of Split-Hand
Deformity. Comparisons may be useful for a differential diagnosis:
Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome is a genetic disorder
which may be characterized by an absence of fingers and/or toes
(ectrodactyly); an absence of tear ducts; cleft lip and/or palate; and sparse
scalp hair, lashes and eyebrows. For more information on this disorder,
choose "Ectodermal dysplasia" as your search term in the Rare Disease
Database.
Therapies: Standard
Reconstructive surgery can be performed on people with split-hand deformity
when applicable, and prosthetics are available to help achieve normal
functioning.
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 July
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 Split-Hand Deformity, 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 National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
Association of Children's Prosthetic and Orthotic Clinics
317 E. 34th Street
New York, NY 10016
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. 685-686, 1380.
MONODACTYLOUS SPLITHAND-SPLITFOOT. A MALFORMATION OCCURRING IN THREE
DISTINCT GENETIC TYPES. G. Bujdoso et al.; EUR J PEDIATR (May 1980;
133(3):207-15.