Absence of Tibia with Polydactyly
What is Absence of Tibia with Polydactyly?
Patients born with Absence of Tibia with Polydactyly have a defect of the shinbone, while the other bones of the lower leg are mostly intact. The malformation may be present in one or both of the legs. These patients will also have abnormalities of the fingers and hands.
Some of these cases are birth defects that are isolated and additional cases can be associated with a variety of skeletal and other malformations from syndroms such as; Werner’s syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome.
What are the symptoms of Absence of Tibia with Polydactyly?Common symptoms of Absence of Tibia with Polydactyly include the following:
- Abnormality of the calf bone (fibula)
- Abnormality of the shinbone (tibia), it could be reduced in size or absent all together
- Bowing of the long bones
- Short stature
- middle bone in the fifth finger is underdeveloped and, instead of being rectangular, is wedge- shaped (Clinodactyly)
- Finger may be fused together (Syndactyly)
- Absent kneecap
- Walking problems
- Extra fingers
- Absent/small thumb