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Disease Profile
Absence of Tibia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
Infancy
ICD-10
Q72.5
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Bilateral absence of the tibia; Tibial hemimelia; Tibia, absence of
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Absence of tibia is a rare
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.
| 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 |
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 |
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 | |
|
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 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 |
| 0000007 | ||
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: https://www.steps-charity.org.uk
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.
References
- Tibial Hemimelia. The Paley Institute. https://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; https://www.omim.org/entry/275220.