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Tibial hemimelia

Orpha number ORPHA93322
Synonym(s) Absence of tibia
Congenital aplasia and dysplasia of the tibia with intact fibula
Congenital longitudinal deficiency of the tibia
Tibial longitudinal meromelia
Prevalence 1-9 / 1 000 000
Inheritance
  • Sporadic
  • Autosomal dominant
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q72.5
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 79177001

Summary

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.

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.

Diagnosis is based on clinical and radiological findings.

Prenatal diagnosis using ultrasound is possible.

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

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 Raoul HENNEKAM

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