Absence of Tibia

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Other Names:

Bilateral absence of the tibia; Tibial hemimelia; Tibia, absence of

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

Absence of tibia is a rare birth defect that is characterized by deficiency of the tibia (the shinbone) with other bones of the lower leg relatively intact. The condition may affect one or both legs. Some cases are isolated birth defects, while others are associated with a variety of skeletal and other malformations.^[1]^[2] It can also be a part of a recognized syndrome such as Werner's syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome. The underlying cause is generally unknown. Although most isolated cases occur sporadically in people with no family history of the condition, absence of the tibia can rarely affect more than one family member.^[3]^[1] Treatment varies based on the severity of the condition, but generally involves surgery (i.e. amputation or reconstructive surgery with a prosthesis adapted to growth).^[1]

Last updated: 2/25/2016

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
Absent tibia	Absent shankbone Absent shinbone [ more ]	0009556
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
30%-79% of people have these symptoms
Knee flexion contracture		0006380
Mesomelic leg shortening		0004987
Split hand	Claw hand Claw hand deformities Claw hands Claw-hand deformities Split-hand [ more ]	0001171
5%-29% of people have these symptoms
Absent hallux	Absent big toe Missing big toe [ more ]	0012386
Absent radius	Missing outer large bone of forearm	0003974
Aplasia of the 2nd metacarpal	Absent 2nd long bone of hand	0010037
Aplasia of the 4th metacarpal	Absent 4th long bone of hand	0010043
Cutaneous finger syndactyly	Webbed fingers Webbed skin of fingers [ more ]	0010554
Foot oligodactyly	Missing toes	0001849
Hip dysplasia		0001385
Increased laxity of ankles		0006460
Metatarsus adductus	Front half of foot turns inward	0001840
Partial absence of foot		0030032
Polydactyly	More than five fingers or toes on hands or feet	0010442
Proximal tibial and fibular fusion	Fusion of innermost shinbone and calf bone	0005892
Radial club hand		0004059
Rudimentary to absent tibiae		0006426
Short tibia	Short shinbone Short skankbone [ more ]	0005736
Split foot	Lobster-claw foot deformity Split-foot [ more ]	0001839
Tarsal synostosis	Fused ankle bones	0008368
1%-4% of people have these symptoms
Ambiguous genitalia	Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia [ more ]	0000062
Cleft palate	Cleft roof of mouth	0000175
Coxa valga		0002673
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hemivertebrae	Missing part of vertebrae	0002937
Hip dislocation	Dislocated hips Dislocation of hip [ more ]	0002827
Hypospadias		0000047
Myelomeningocele		0002475
Percent of people who have these symptoms is not available through HPO
Abnormality of the skeletal system	Skeletal abnormalities Skeletal anomalies [ more ]	0000924
Autosomal recessive inheritance		0000007

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

Last updated: 2/1/2021

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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 MedlinePlus Genetics.

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

STEPS Charity
Telephone: 01925 750271
E-mail: info@steps-charity.org.uk
Website: http://www.steps-charity.org.uk

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 Pediatric Orthopaedic Society of North America offers an information page on Absence of Tibia. Please click on the link to access this resource.

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 Absence of Tibia. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

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References References

Tibial Hemimelia. The Paley Institute. http://www.paleyinstitute.org/orthopedic-conditions/tibial-hemimelia/th-overview. Accessed 2/25/2016.
Leite JA, Lima LC, Sampaio ML. Tibial hemimelia in one of the identical twins. J Pediatr Orthop. October-November 2010; 30(7):742-745.
TIBIAL HEMIMELIA. OMIM. September 2014; http://www.omim.org/entry/275220.

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