Search for a rare disease
Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.
- 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, Neonatal
- ICD-10: Q72.5
- OMIM: 275220
- UMLS: -
- MeSH: -
- GARD: 8707
- MedDRA: -
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 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.