Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with relatively intact fibula. Tibial hemimelia is identified as a solitary disorder, or a part of more complex malformation syndromes.
Although the majority of cases with tibial hemimelia are sporadic, affected families with possible autosomal dominant or autosomal recessive inheritance have been reported.
Associations
Association tibial agenesis-ectrodactyly (#12730719#)