National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cleft hand absent tibia


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

Orpha Number: 3329

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: 5/1/2008

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
Absence/underdevelopment of inner forearm bone
0006495
Brachydactyly
Short fingers or toes
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
Showing of 23 |
Last updated: 7/1/2020

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

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.

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

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.

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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