Cleft hand absent tibia

Title

Other Names:

Aplasia of tibia with ectrodactyly; Tibial aplasia with split-hand/split-foot deformity; Ectrodactyly with aplasia of long bones; Aplasia of tibia with ectrodactyly; Tibial aplasia with split-hand/split-foot deformity; Ectrodactyly with aplasia of long bones; Split-hand/foot malformation with long bone deficiency; SHFLD See More

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Musculoskeletal Diseases See More

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 3329

Disease definition

Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.

Epidemiology

The incidence is estimated to be approximately 1 in 1,000,000 live births.

Clinical description

The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears.

Etiology

Two susceptibility loci at 1q42.2-q43 and 6q14.1 have been identified, leading to the hypothesis that this syndrome fits the model of digenic inheritance.

Differential diagnosis

Overlap with the Gollop-Wolfgang syndrome (see this term) has been described.

Genetic counseling

The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. Autosomal recessive inheritance has also been proposed in some families.

Visit the Orphanet disease page for more resources.

Last updated: 5/30/2008

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Split hand	Claw hand Claw hand deformities Claw hands Claw-hand deformities Split-hand [ more ]	0001171
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the tibia	Absent/small shankbone Absent/small shinbone Absent/underdeveloped shankbone Absent/underdeveloped shinbone [ more ]	0005772
Limitation of joint mobility	Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ]	0001376
5%-29% of people have these symptoms
Aplasia/Hypoplasia of the ulna		0006495
Brachydactyly		0001156
Femoral bowing	Bowed thighbone	0002980
Fibular hypoplasia	Short calf bone	0003038
Finger syndactyly		0006101
Omphalocele		0001539
Overfolded helix	Overfolded ears	0000396
Patellar aplasia	Absent kneecap	0006443
Popliteal pterygium		0009756
Postaxial hand polydactyly	Extra little finger Extra pinkie finger Extra pinky finger [ more ]	0001162
Preaxial hand polydactyly	Extra thumb	0001177
Short femur	Short thighbone	0003097
Percent of people who have these symptoms is not available through HPO
Absent forearm		0005632
Absent tibia	Absent shankbone Absent shinbone [ more ]	0009556
Aplasia of the 3rd finger	Absent middle finger	0009460
Autosomal dominant inheritance		0000006
Cupped ear	Cup-shaped ears Simple, cup-shaped ears [ more ]	0000378
Hand monodactyly		0004058
Short hallux	Short big toe	0010109
Split foot	Lobster-claw foot deformity Split-foot [ more ]	0001839

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 4/1/2018

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

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 Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

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.

Do you know of an organization? We want to hear from you.

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.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Cleft hand absent tibia. Click on the link to view a sample search on this topic.

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