Absence of Tibia
Alternate names[edit | edit source]
Bilateral absence of the tibia; Tibial hemimelia; Tibia, absence of
Definition[edit | edit source]
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.
Summary[edit | edit source]
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.
Cause[edit | edit source]
The underlying cause is generally unknown. It can also be a part of a recognized syndrome such as Werner's syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome.
Inheritance[edit | edit source]
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.
Signs and symptoms[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Absent tibia(Absent shankbone)
- Talipes equinovarus(Club feet)
30%-79% of people have these symptoms
- Knee flexion contracture
- Mesomelic leg shortening
- Split hand(Claw hand)
5%-29% of people have these symptoms
- Absent hallux(Absent big toe)
- Absent radius(Missing outer large bone of forearm)
- Aplasia of the 2nd metacarpal(Absent 2nd long bone of hand)
- Aplasia of the 4th metacarpal(Absent 4th long bone of hand)
- Cutaneous finger syndactyly(Webbed fingers)
- Foot oligodactyly(Missing toes)
- Hip dysplasia
- Increased laxity of ankles
- Metatarsus adductus(Front half of foot turns inward)
- Partial absence of foot
- Polydactyly(More than five fingers or toes on hands or feet)
- Proximal tibial and fibular fusion(Fusion of innermost shinbone and calf bone)
- Radial club hand
- Rudimentary to absent tibiae
- Short tibia(Short shinbone)
- Split foot(Lobster-claw foot deformity)
- Tarsal synostosis(Fused ankle bones)
1%-4% of people have these symptoms
- Ambiguous genitalia(Ambiguous external genitalia)
- Cleft palate(Cleft roof of mouth)
- Coxa valga
- Cryptorchidism(Undescended testes)
- Hearing impairment(Deafness)
- Hemivertebrae(Missing part of vertebrae)
- Hip dislocation(Dislocated hips)
- Hypospadias
- Myelomeningocele
Diagnosis[edit | edit source]
Treatment[edit | edit source]
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).
NIH genetic and rare disease info[edit source]
Absence of Tibia is a rare disease.
- Need help finding a doctor or specialist anywhere in the world? WikiMD's DocFinder can help with millions of doctors!
This article is a stub. Help WikiMD grow by registering to expand it. |
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju