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Diseases Treated – Comprehensive Listings
General informational limb lengthening to view:
Absent Thumb (thumb aplasia) – a total absence of the thumb may be an isolated situation or may be due to another congenital abnormality. We treat this condition with a pollicization (surgical construction) of the index finger.
Achondroplasia – or dwarfism, is a genetic condition resulting in abnormally short stature and disproportionately short limbs relative to the body's trunk and rhizomelic disproportion of the limb segments.(relating to the hip or shoulder joints) Associated deformities include genu varum (bowlegs), genu valgum (knock knees), hip flexion deformity with compensatory hyperlordosis (exaggerated lumbar curve) of the spine and spinal stenosis (narrowing), dislocated radial head, flexion deformity of the elbow and trident hand. We perform extensive limb lengthening (ELL) for stature and for restoration of proportion of the limbs to the trunk, in which the upper to the lower bone segments (femur to tibia, humerus to forearm) is combined with correction of deformities of the ankles, knees, hips, elbows and hands. The correction of the hip deformity indirectly improves the hyperlordosis and spinal stenosis.
Amputees with Residual Short Limbs – extremely short residual limbs (stumps) limit the prosthetic options available. To improve prosthetic wear and function we lengthen the residual limb of above knee amputation, below knee amputation, foot amputation, above elbow amputation and below elbow amputation. Even bilateral cases can be treated.
AVN (Avascular Necrosis) of the Hip - also known as osteonecrosis, avascular necrosis is the death of bone due to lack of blood supply. This leads to weakening of the bone and subsequent collapse and deformity of the femoral head. If left untreated, arthritis of the hip develops. We perform surgery to preserve the hip joint and remove all the dead bone. In more severe cases the misshapen femoral head can be reshaped to preserve the joint.
Beckwith Wiedemann Syndrome - is an overgrowth disorder which manifests in many different ways including hemihypertrophy, (one side of the body is larger than the other). Equalization of limb length is carried out by lengthening the short leg.
Blount's Disease – is a growth disorder of the tibia causing severe bowing of the legs affecting one or both legs. We treat this condition in children and adults by correcting the bowleg deformity. This involves specialized osteotomies (bone cutting) of the tibia including an intra-articular osteotomy (within the bone) in some cases.
Bone Defects – bone that is lost due to trauma, tumor or infection can be regrown by a technique called bone transport. This restores the integrity of the bone. We have successfully treated bone defects from 2 to 20 cm (one to eight inches).
Brachymetatarsia – is a condition whereby one of the five metatarsal bones of the foot is abnormally short resulting in a shortened toe. This usually occurs bilaterally (both feet) and most commonly affects the fourth toe. We treat this by lengthening of the fourth metatarsal.
Brachymetacarpia – a condition whereby one of the five metacarpal bones of the hand is abnormally short resulting in a shortened finger or thumb. This usually occurs bilaterally (both hands) and most commonly affects the fourth finger. We treat this by lengthening of the fourth metacarpal.
Cartilage Hair Hypoplasia (McKusick Syndrome) – is a disorder of bone growth resulting in short stature and other skeletal abnormalities as well as fine, sparse hair and compromised immune system function. These patients have disproportionate dwarfism but are usually shorter than achondroplastic dwarves. We successfully treat them by extensive limb lengthening of both femurs and tibias.
Charcot Foot – is a neuropathic joint disease that is a common complication of diseases that damage nerves such as diabetes. Problems that occur as a result of this disease are fractures, dislocations and rapid destruction of foot joints. These require joint reduction, stabilization and fusion.
Charcot Marie Tooth Disease – is an inherited degenerative nerve disorder that causes muscle weakness and atrophy in the feet, legs, hands and forearms. Charcot, Marie, and Tooth are the names of the physicians who first identified and described the disease and its symptoms. Patients present with foot drop, high arch and walking on the side of the foot. If left untreated, patients will develop ankle arthritis and severe calluses. We use a new method to correct the high arch to normal and to correct the foot drop at the same time by transferring the posterior tibial tendon.
Chondroectodermal Dysplasia – also known as Ellis-van Creveld Syndrome. It is an autosomonal (genetically passed through both parents) recessive skeletal dysplasia that results in short-limbed disproportionate dwarfism. The most severe deformity is the knock knee deformity due to lack of development of the lateral plateau of the tibia. We perform a special intra-articular osteotomy (bone cutting inside the joint or bone) to elevate the lateral tibial plateau.
Clubfoot – present a birth, clubfoot is referred to when one or both feet appear internally rotated at the ankle. It is a common birth defect occurring approximately one in one-thousand live births. We treat clubfoot in our own clubfoot clinic using the Ponseti Method.
deCongenital Dislocation of the Patella – is a dislocation of the knee cap from birth usually associated with rotatory subluxation of the tibia on the femur, with internal femoral torsion and with flexion contracture of the knee. If left untreated, arthritis of the knee will develop. The flexion contracture of the knee makes the limb appear shorter than the other side. This condition can be unilateral or bilateral. The best treatment for this condition is the superknee procedure.
Congenital Femoral Deficiency (also known as PFFD: Proximal Femoral Focal Deficiency) – leads to a congenitally short femur with different degrees of a lack of formation of the hip and knee joints. In the mildest cases the hip and knee are properly formed and only the femur is short. In more severe cases the hip is severely deformed, the knee is unstable or has a flexion contracture and the femur is short. In the most severe cases there is either no connection between the femoral head and the femoral shaft or there is no hip joint at all and the knee is not only contracted but also stiff (limited in its motion). The treatment for cases with a well-formed femur is lengthening. For the more severe deformity, the superhip and superknee procedures are used to reconstruct the hip and knee before lengthening. If there is a true pseudarthrosis (false joint) the superhip 2 procedure is used to build a femoral neck and connect the femoral shaft with the femoral head. Finally in the most severe cases Symes amputation and Rotationplasty should be considered.
View video: Congenital Femoral Deficiency
Congenitial Dislocation of the Hip, (now referred to as DDH, Developmental Dislocation of the Hip) - true congenital dislocation of the hip refers to dislocation of the hip that occurs before birth. This is also referred to as teratologic dislocation of the hip.
Congenitial Pseudarthosis of the Tibia – is a condition in which the tibia develops a fracture that does not heal. This is probably a disease of the periosteum (the tissue covering the bone). The periosteum essentially strangles the underlying bone leading it to become thinner and also fracture. Over half the cases have neurofibromatosis. The other half are idiopathic (no known cause) or related to fibrous dysplasia. We treat this with pharmacologic treatment using biphosphonates to prevent bone absorption by the osteoclast cells, as well as surgery to fix the bone with a rod and bone as well as periosteal graft and external fixator.
View video: Congenital Pseudarthrosis Tibia
Book Chapter: Congenital Pseudarthrosis of the Tibia: Combined Pharmacologic and Surgical Treatment Using Biphosphonate Intravenous Infusion and Bone Morphogenic Protein with Periosteal and Cancellous Autogenous Bone Grafting, Tibio-Fibular Cross Union, Intramedullary
Diastrophic Dwarfism – is a skeletal dysplasia characterized by scoliosis-(abnormal lateral curvature of the spine), hitchhiker thumb due to shortening of the first metacarpal bone, cleft palate, malformed ear with calcification, and clubbed foot. We treat these patients with reconstruction of the hip, knee, and foot. Lengthening is not as common in this group due to the severe joint problems.
Fibrous Dysplasia – is a bone disorder in which scar-like (fibrous) tissue grows in place of normal bone, weakening the bone, and often leading to deformity, fracture, and leg length difference. We treat this condition by correcting the deformity and in some cases by removal of the benign tumors and bone grafting.
Fibular Hemimelia – is a rare disease disease occurring in 1 in 40,000 births. Fibular Hemimelia results in the partial or total absence of the fibula, a shortening of the tibia, and foot deformity. We treat the foot deformity with the superankle procedure and combine this with lengthening surgery.
Gaucher Disease – is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase. This results in a fatty material, or lipid accumulating in the body. Avascular necrosis and bone fractures are common orthopedic manifestations of this disease. We treat the avascular necrosis of the hip and any other associated bone deformities.
Hemiatrophy and Hemihypertrophy – is a condition where one side or part of the body is larger than the other. We equalize the limb length in these patients either by epiphysiodesis (growth plate closure) or by limb lengthening. Patients with this condition should be ultrasound screened for Wilm’s tumor of the kidney until age 6.
Hurler's Disease – is a hereditary disease characterized by severe abnormalities in the development of skeletal cartilage and bone often resulting in dwarfism and limb deformities. We correct the limb deformities associated with this condition.
Hypochondroplasia – a form of dwarfism similar to but milder than achondroplasia, (see also) and also characterized by disproportion of the limbs to the trunk and rhizomelia (disproportion of the tibia to the femur and the forearm to the humerus). Unlike achondroplasia,it involves less facial malformation and less spinal stenosis (narrowing) and lumbar hyperlordosis (exaggerated curvature of the lumbar spine). We treat these patients with extensive limb lengthening techniques for the femur, tibia and humerus similar to those used for achondroplasia. The only difference is that for hypochondroplasia we do less lengthening in amount and less deformity correction.
Holt Oram Syndrome – also known as heart-hand syndrome, characterized by radial club hand, absent thumb and heart defects. We treat these patients with ulnarization of the hand on the ulna and with pollicization (surgical construction) of the index finger.
Madelung's Deformity – is a deformity of the wrist where part of the distal radius does not develop properly leading to subluxation (partial dislocation) of the wrist bones between the radius and ulna. The distal joint between the radius and ulna is dislocated leading to a prominent bump from the head of the ulna. Many cases are hereditary, some are related to Mesomelic Dysplasia. We treat this by opening the wrist joint from the palmer side and performing a complicated intra-articular osteotomy (bone cutting inside the joint) to elevate the depressed part of the radius and reduce the wrist bones into a joint combined with a second osteotomy to realign the lower radius and fix it with a metal plate. We combine the osteotomies with reduction and ligamentous reconstruction of the distal radio-ulnar joint.
Melorheostosis – is a very rare and progressive disorder characterized by thickening excessive bone formation inside the medullary canal of the bone. It is often associated with joint contractures affecting the upper or lower limbs. Foot and knee deformities are the most commonly affected joint contractures (permanent shortening of a muscle or tendon). The safest and best treatment is gradual distraction (surgical process to construct skeletal deformities) with an external fixator (device) of the affected joints to correct the contractures.
Monocompartmental Arthritis of the Knee – is an arthritis of the medial or lateral side of the knee. Medial compartment osteoarthritis is usually related to varus deformity of the knee and is usually treated by a valgus osteotomy of the tibia. In cases where the varus (bowleg) deformity is in the femur the osteotomy (bone cutting) is performed in the femur. Lateral compartment osteoarthritis is usually related to valgus deformity of the femur and is treated by varus osteotomy of the femur. In the cases where the deformity is in the tibia it is performed there. Overcorrection of the alignment is required to unload the arthritic side and to transfer the load to the non-arthritic compartment.
Multiple Hereditary Exostoses (multiple osteochondromas) – MHE is characterized by growths of multiple osteochondromas (benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones). Osteochondromas can be associated with a reduction in skeletal growth leading to short stature or leg length discrepancy, bony deformity, restricted joint motion, and entrapment of peripheral nerves. We treat MHE by removal of offending osteochonromas, osteotomies to realign bones and joints, and dislocation of the hip to improve range of motion and eliminate impingement and nerve decompression.
View video: Multiple Hereditary Exostoses Forearm
Read more about: Multiple Exostoses of the Forearm
Read more about: Multiple Exostoses of the Lower Limb
Nail-Patella Syndrome – a rare genetic disorder that often results in absent or under-developed kneecaps and thumbnails, as well as joint contractures of the knee and ankles leading to arthritis of these joints in later life. We treat this condition by distraction of the contractures of the knee joint combined with osteotomies (bone cutting) to realign and stabilize the knee and ankle.
Neonatal Sepsis Sequelae – infection of the hip, knee or ankle can lead to damage to the joint and/or growth plates. This results in joint instability and incongruity as well as leg length discrepancy, plus limb and fatigue pain. The treatment for this is to lengthen the limb once or twice in childhood combined with a pelvic support osteotomy for the hip or an intra-articular femoral osteotomy for the knee.
Neurofibromatosis – is a condition that causes tumors to grow on nerve tissues resulting in skin abnormalities and bone deformities. It is associated with congenital pseudarthrosis (or false joint formed by fibrous tissue joining two bone fragments of an old fracture) of the tibia.
Nonunions (pseudarthrosis)(infected and non infected) – results when a broken bone does not heal following trauma or surgery. The cause is related to instability of the fracture site with excessive motion, lack of blood supply to the bone ends, infection, an intact fibula for tibial nonunions, etc. Treatment is to eliminate infection, obtain stability of the fracture site, bone graft if the site is dormant, cut the fibula if it is intact, and remove any dead or infected bone if it is present.
Ollier's Disease – a condition where multiple enchondromas (benign tumors of cartilage) are found (usually asymmetrically) throughout the skeleton leading to leg length difference and deformity. Olliers leads to the second largest magnitude of leg length difference after CFD. Olliers is treated by staged lengthenings of the short limb combined with deformity correction. It is not necessary to remove the tumors in most cases except in the hand. The tumors will heal if one cuts across them with the osteotomy.(bone cutting).
Osteogenesis Imperfecta (also known as “brittle bone disease”) – osteogenesis imperfecta is characterized by extremely fragile bones making them susceptible to fracture -and the biggest problem is bone deformity. Some cases also have a leg length difference and some develop protrusion of the hip. Deformity correction using osteotomy combined with lengthening if needed is the mainstay of treatment. Biphosphonate treatment is important to prevent further fractures.
Osteomyelitis (bone infection) – occurs either from blood-borne bacteria or from surgery or trauma. The treatment is to remove any dead bone and soft tissues and to grow back new bone in its place usually with bone transport.
Paget's Disease – is a metabolic bone disease probably caused by a virus and leading to abnormal bone resorption and formation. Most common in older patients, it leads to deformities and fractures of bones as well as arthritis of the hip and knee. We correct the bone deformities with osteotomies (bone cutting) and fix the fractures with external or internal fixation. Excessive bleeding at surgery is a concern in these patients especially with joint replacement.
Perthes' Disease – is a type of avascular necrosis of the hip that occurs in children between the ages of 3 and 13. Avascular necrosis is a disease that results from the temporary or permanent loss of blood supply to the bones. After age 13, it is usually called adolescent AVN. It affects both hips in 15% of patients. During the healing process the femoral head can deform. The more deformed the femoral head, the greater likelihood of subsequent pain as well as accompanying limp and arthritis. We treat the earliest forms (before collapse) of Perthes by drilling of the femoral head to allow new blood vessels to grow in. Once the hip shows collapse and subluxation,(dislocation) we prefer to reduce the hip into joint and unload it using the external fixator technique developed by Dr. Paley in 1989. In older children whose hips have healed with a deformity of the femoral head, as well as limited motion or pain and impingement, we dislocate the femoral head and reshape it with a special osteotomy (bone cutting technique that reshapes or partially removes the bone to realign the load bearing surfaces of the joint).
Read more about: Perthes’ for Parents
View video: Perthes Avn Femoral Head Reshaping
View video: Perthes Hip Distraction Treatment
Pfeiffer Syndrome – is a condition resulting from premature fusion of sutures in the skull and associated with radiohumeral synostosis of the elbow. We have a method to restore some elbow motion by separating the humerus from the radius and ulna and creating a false elbow joint.
Poland Syndrome – results in the absence or underdevelopment of the chest muscle on one side of the body and webbing of the hand on the same affected side. The lack of rotation of the forearm and the webbing and shortening of the fingers may benefit from surgical treatment.
Popliteal Ptergyium Syndrome – a very rare congenital webbing of the knee which may also affect the ankle and elbow. We have successfully treated many cases of this rare condition using a specialized new procedure including sub-total fasciectomy, (surgical procedure that cuts fascia to relieve tension or pressure) muscle and nerve releases and either knee distraction or acute shortening with capsulotomy(incision into a nerve) followed by femoral relengthening.
Post Traumatic Growth Arrest – this condition occurs when there is damage to a growth plate resulting from a fracture. The growth plate may completely stop growing or partially arrest. In the former, a limb length discrepancy results, the magnitude of which depends on the age of the arrest. With partial growth arrest a deformity may result if the partial closure is peripheral, due to asymmetric (even) growth of the growth plate. If the partial closure is central, it may tether growth (leading to leg length difference) or alter the shape of the joint especially in the knee joint. For compete growth arrest the limb can be lengthened or the opposite corresponding growth plate can be closed depending on the age. For partial arrest, the bridge of bone can be removed in younger patients to allow symmetric growth to resume, or the growth plate can be closed and an osteotomy (bone cutting) performed to realign the joint.
Posteromedial Bowing of the Tibia – is a congenital bowing of the tibia and a calcaneogalgus (heel bone) foot deformity. Patients with posteromedial bowing of the tibia usually develop a limb length discrepancy and ankle problems. If treated early the ankle problems can be prevented. The goal of treatment is correction of deformity and to equalize limb length.
Pseudoachondroplasia – a severe type of dwarfism characterized by joint laxity and severe deformities affecting the hips, knees and ankles. Realignment of the joints is the first priority. Extensive limb lengthening can be done with neutralization of joint forces by extending the external fixators (device) across the joints.
Radial Club Hand – results from congenital radial deficiency where the radius is completely or partially absent. It is associated with an absent thumb in many cases except when there is TAR syndrome. There may also be limited motion of the elbow. Many cases are bilateral. Numerous other associated anomalies can be found including renal and cardiac anomalies, hemivertebra, treacheo-esophageal fistula, imperforate anus, thrombocytopenia, and Fanconi’s anemia. Correction of the hand deformity and instability is carried out by ulnarization and tendon transfer. Pollicization (surgical construction) of the index finger is used if the thumb is absent. Serial lengthening procedures are carried out to equalize and create normal limb length.
View video: Ulnarization
Roberts Syndrome – a very rare genetic disorder resulting in limb and facial abnormalities with all four limbs usually affected. According to the deficiency, upper and lower limb surgeries are carried out.
Rocker Bottom Foot – a congenital foot deformity usually due to a vertical talus, (rigid rocker bottom). Surgical correction leads to a plantigrade foot, resulting in ability to walk on the whole bottom of the foot.
Rotational Deformities – There are numerous rotational deformities, including:
- Internal Tibial Torsion - causes intoeing
- External Tibial Torsion - causes outtoeing
- Internal Femoral Torsion- torsion refers to the extreme lateralor medial twisting of the femur inward
- External Femoral Torsion- same refers here but outward lateral or medial twisting of the femur
- Insquinting patellas due to external tibial torsion combined with internal femoral torsion
The treatment depends on the severity. Osteotomy surgery to derotate the femur and/or the tibia is used.
Russel Silver Syndrome – a rare disorder affecting growth in stature and resulting in a leg length discrepancy. Limb lengthening or epiphysiodesis (growth plate removal or partially rotated) can be used to equalize the discrepancy. Growth hormone may be useful to treat the short stature.
Slipped Capital Femoral Epiphysis (SCFE) – occurs when the ball at the upper end of the femur (femoral head) slips off the neck of the femur through a weakness in the upper femoral growth plate. After the slip the femoral head is facing backward. In severe cases the hip should be dislocated to reduce the femoral head back into place. For milder cases a single screw is used to hold the femoral head in place and prevent further slippage.
Streeters Syndrome (amniotic band syndrome) – results when bands of amniotic sac wrap around the limbs or head or torso and act like a tourniquet and cutting off the blood supply. This can even lead to amputation. Depending on the location of the bands, treatment to undo the constriction bands, lengthen the short extremity, correct syndactyly and lengthen fingers is used.
Spondyloepiphyseal Dysplasia – a severe type of dwarfism in which the cartilage of the joints is very deformable leading to deformities of the hips, knees and ankles. In the hip it can mimic AVN. (See AVN- avascular necrosis).Surgery to cover and reshape the hips and realign the knees and ankles is often warranted. Lengthening for stature can be done in modest amounts.
Syndactyly – occurs where two or more adjacent fingers or toes are webbed together and connected by bone and/or soft tissues. The treatment is to perform a syndactaly release.
TAR Syndrome (Thrombocytopenia-Absent Radius) – results in the absence of the radius (radial club hand). Patients with TAR Syndrome often present with a platelet deficiency (thrombocytopenia) and other skeletal abnormalities, including the deformities of the knees. The thumbs are usually present but hypoplastic, (incomplete or underdeveloped). Treatment is the same as for radial club hand, mindful of the platelet count. Platelet transfusion may be required prior to surgery.
Tibial Hemimelia – occurs one-in-one-million live births, resulting in a complete or partial absence of the tibia. For complete absence of the tibia with a patella present a special reconstruction is done to connect the fibula to the patella. For complete absence without a patella, either through knee amputation or centralization with insertion of a fibulo-femoral ligament must be considered. For partial absence the foot deformity is corrected together with lengthening of the tibia or centralization of the fibula, as well as fusion of the ankle bone to the fibula.
Whistling face syndrome (also known as Freeman-Sheldon Syndrome) - a rare genetic disorder resulting in a small “whistling” mouth, a flat mask-like face, club feet, joint contractures and overall muscle weakness.