Split hand/foot malformation X-linked

Title

Other Names:

SHFM2; Split hand foot deformity 2; SHFD2; SHFM2; Split hand foot deformity 2; SHFD2; Split hand foot anomaly - X-linked; SHSF2 See More

Summary Summary

Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits.^[1]^[2] The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits.^[3] SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

Last updated: 1/22/2014

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Finger syndactyly	-
Short metacarpal	-
Short phalanx of finger	-
Split foot	-
Split hand	-
X-linked inheritance	-

Last updated: 9/1/2016

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The University of California San Francisco Limb Study is researching the genetic causes of limb malformations. They are looking for participants who only have problems with their limbs, such as fused or webbed fingers/toes, more than 5 fingers/toes, less than 5 fingers/toes, split hand and foot also called ectrodactyly, short fingers/toes, bent pinky fingers, extra long fingers, flexed fingers, club foot, etc. Visit the study’s website to learn more about who is eligible to take part in this study.

Patient Registry

The Genetic Analysis of Limb Malformation Disorders is a research project and patient registry that aims to better understand the cause of congenital contractures. Click on the link above to learn more.

Genetic Analysis of Limb Malformation Disorders
Bamshad Laboratory
University of Washington SOM
Department of Pediatrics
Division of Genetics & Developmental Medicine
1959 NE Pacific St. HSB RR349 B
Seattle, WA 98195-6320 USA
Maggie McMillin, Research Study Coordinator
E-mail: margaret.mcmillin@seattlechildrens.org
E-mail 2: mcmillin@u.washington.edu
Phone: 206-221-3849

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.

Organizations Supporting this Disease

Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: 407-895-0802
E-mail: staff@birthdefects.org
Website: http://www.birthdefects.org/
Reach: The Association for Children with Hand or Arm Deficiency
P.O. Box 54
Helston Cornwall, Intl TR13 8WD
United Kingdom
Telephone: 0845 1306225
Website: http://www.reach.org.uk
The Feingold Center for Children
52 Second Avenue, 1st Floor
Suite 520
Waltham, MA 02451
Telephone: 781-466-9555
Fax: 781-487-2361
E-mail: info@thenbdc.org
Website: http://www.thefeingoldcenter.org/

Social Networking Websites

RareConnect is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for limb differences.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The Children’s Hospital Boston has a information page on congenital limb defects. Click on the link above to view this information page.
More information on limb abnormalities can be found at the following link from MEDLINEplus, the National Library of Medicine Web site designed to help you research your health questions.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
PubMed is a searchable database of medical literature and lists journal articles that discuss Split hand/foot malformation X-linked. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

If you would like to submit a question, please contact GARD

References References

Bianchi DW, Crombleholme T, D’Alton ME. Ectrodactyly. In: Bianchi DW et al.,. Fetology. Philadelphia, PA: McGraw-Hill; 2000;
Duijf P, van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation. Human Molecular Genetics. 2003;
Elliott AM, Evans JA, Chudley AE. Split hand foot malformation. Clinical Genetics. December 2005; 68(6):501-5. http://www.ncbi.nlm.nih.gov/pubmed/16283879. Accessed 4/14/2011.