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

What causes Absence of Tibia with Polydactyly?

Absence of Tibia with Polydactyly is passed on genetically. The disorder is passed by autosomal recessive pattern of inheritance. In Autosomal recessive pattern of inheritance, the disorder is passed on by two carriers and the patient inherits a mutated gene from each parent. The carriers health is rarely affected., but they have one mutated gene, which is recessive and a dominant gene that is normal.

How is Absence of Tibia with Polydactyly diagnosed?

Absence of Tibia with Polydactyly can be diagnosed through MRI, ultrasound and with genetic testing.

What are the treatments for Absence of Tibia with Polydactyly?

The condition’s severity will determine the course of treatment. Surgery possibly involving amputation and reconstructive surgery is a course of treatment. Patients will can also be fitted with a prosthesis.

Where can I find out more about Absence of Tibia with Polydactyly?

• NIH
• Check Orphan
• Steps