$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.