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Absence of Tibia

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Alternate names

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

Definition

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

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

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

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

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

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

Treatment

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

Absence of Tibia is a rare disease.

External links

Wikipedia
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