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Tibial hemimelia

Synonym(s) Congenital absence of tibia
Congenital aplasia and dysplasia of the tibia with intact fibula
Congenital longitudinal deficiency of the tibia
Tibial longitudinal meromelia
Prevalence -
Inheritance Not applicable
or Autosomal dominant
or Autosomal recessive
Age of onset Infancy
  • Q72.5
MeSH -
MedDRA -


Disease definition

Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.


Prevalence is estimated at 1 in 1,000,000 live births.

Clinical description

Tibial hemimelia can be unilateral or bilateral. It may occur as an isolated anomaly, or as a part of a complex malformation syndrome (such as the Gollop-Wolfgang complex and triphalangeal thumb-polysyndactyly syndrome, see these terms).


The etiology remains uncertain.

Diagnostic methods

Diagnosis is based on clinical and radiological findings.

Antenatal diagnosis

Prenatal diagnosis using ultrasound is possible.

Genetic counseling

Although the majority of cases with tibial hemimelia are sporadic, affected families with possible autosomal dominant or autosomal recessive inheritance have been reported.

Management and treatment

Management requires surgical correction of the tibial hemimelia and any associated malformations, especially those concerning the foot (equinovarus, partial duplication of the foot). Reconstructive surgery and a prosthesis adapted to growth, together with regular post-operative follow-up, are necessary for optimal functional results.

Expert reviewer(s)

  • Pr R.C. [Raoul] HENNEKAM

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