My Approach:
As in the treatment of AMC, Popliteal Pterygium Syndrome and Escobar Syndrome can be treated effectively without loss of motion and therefore most often without the use of an external fixator. As in AMC, the knee can be brought from a flexed position of more than ninety degrees to straighten and maintain the motion of the knee. The hip should be treated simultaneously and released from its flexed position. This surgery often involves shortening the femur, excision of the pterygium, lengthening the skin (Z plasties), as well as decompression and freeing of the nerves. Because Escobar Syndrome has a very variable amount of contracture, each patient and each limb has to be approached uniquely.
The spine in Escobar Syndrome can be complicated with congenital fusions of the vertebra. Treatment, which often is surgical, should be performed before there is a loss of pulmonary function. This is most often a spinal fusion with instrumentation as well as spinal osteotomies.
Patient Stories
More Information:
Popliteal Pterygium Syndrome is an autosomal dominant syndrome associated with cleft palate and is a defect on Chromosome 1.
Escobar Syndrome is an autosomal recessive disorder noted to have a defect in the CHRNG gene -gamma (γ) protein component (subunit) of the acetylcholine receptor (AChR) protein. Another type of mutation can be a MYH3 mutation (Myosin) on Chromosome 17.
The pterygium of the lower extremity is one symptom of these disorders that may also have spinal, mandibular, and facial issues. A pterygium behind the knee, extending from the hip to the foot, is a condition that can be sporadic or associated with these two conditions. This webbing is a pathologic fibrous band that may encompass and/or replace the hamstring musculature. The pathology can often lead to greater than ninety degree flexion contractures of the knee. Splitting of the sciatic, in which the peroneal nerve usually follow its normal pathway and runs with the posterior neurovascular bundle until it progresses laterally and runs around the fibular neck anteriorly entering the lateral compartment and the deep peroneal nerve through the intermuscular septum into the anterior compartment, can also occur. The tibial nerve splits proximally from the sciatic nerve and runs subcutaneously posterior in the thigh and then may either enter and split or go medial to the Achilles tendon. The structure that lies right under the skin behind the knee feels like a taut guitar string and is actually the posterior tibial nerve. Therefore, due to the risk of neurologic injury, surgeons should never percutaneously release muscles and tendons in this patient population. The good news is that, although the contractures can be quite severe in these conditions, the muscles are often present and functioning. This is unlike the musculature commonly seen in AMC.
The scoliosis seen in Escobar Syndrome is some of the most complicated to treat of all syndromes. This is due to the spine being so architecturally abnormal and being fused (welded) together in so many areas. Treatment may include any and all modalities including growing rods (magnetic or regular), the Vertical Expandable Prosthetic Titanium Rib (Synthes Corp.) and tethering or standard fusion techniques with instrumentation.
Cause:
Popliteal Pterygium Syndrome is an autosomal dominant syndrome associated with cleft palate and is a defect on Chromosome 1.
Escobar Syndrome is an autosomal recessive disorder noted to have a defect in the CHRNG gene -gamma (γ) protein component (subunit) of the acetylcholine receptor (AChR) protein. Another type of mutation can be a MYH3 mutation (Myosin) on Chromosome 17.
Diagnosis Methods:
Diagnosis is made clinically and can be confirmed on genetic testing.
