summary Arthrogryposis is a non-progressive congenital disorder of unknown etiology that presents with multiple rigid joints leading to stiffness and severe limitation in motion in all 4 limbs. Diagnosis is made clinically with presence of concomitant elbow and knee hyperextension contractures, shoulder internal rotation contractures, hands with intrinsic plus deformity and severe limitation in range of motion of all 4 limbs. Genetic and enzyme testing can be helpful in supplementing diagnosis. Treatment is a multidisciplinary approach to address joint stiffness in all 4 limbs with a trial of bracing and casting followed by surgical soft tissue release or osteotomies as necessary. Epidemiology Incidence 1:3000 live births Etiology Mechanism symmetry of contractures due to immobilization in utero neurogenic (90%) myopathic (10%) Pathophysiology exact mechanism unknown some mothers have serum antibodies inhibiting the fetal acetylcholine receptors leading to a decreased number of anterior horn cells Associated conditions orthopaedic manifestations upper extremity deformity teratologic hip subluxation and dislocation knee contractures foot conditions clubfoot vertical talus neuromuscular C-shaped scoliosis (33%) fractures (25%) Prognosis Nonambulatory (25%) Classification Arthrogryposis classification Type I Single localized deformity (e.g., forearm pronation) Type II Full expression (absence of shoulder muscles, thin limbs, elbows extended, wrists flexed and ulnarly deviated, intrinsic plus deformity of hands, adducted thumbs, no flexion creases) Type III Full expression (type II) with polydactyly and involvement of non-neuromuscular systems Presentation Physical exam inspection & palpation shoulders adducted and internally rotated (absense of shoulder muscles) elbows extended (no flexion creases) wrists flexed and ulnarly deviated hands with intrinsic plus deformity thumb adducted hips flexed, abducted, and externally rotated subluxation or teratologic dislocation common knees extended (classical), most of the time flexed clubfeet normal intelligence, facies, sensation, and viscera range of motion severely limited usually involving all four extremities Studies Perform at 3-4 months of age neurologic studies enzyme tests muscle biopsies Upper Extremity Deformity Treatment goals allow optimal function to increase ability to drive an electric chair and use computer assisted devices one elbow in extension for positioning and perianal care and one elbow in flexion for feeding nonoperative passive manipulation and serial casting indications first line of treatment operative soft tissue releases, tendon transfers, osteotomies indications consider after age 4 to allow independent eating Upper extremity treatment table Deformity Procedure Elbow extension Triceps V-Y lengthening and posterior capsulectomy at 1.5 to 3 years (4 yrs and older?) Wrist palmar flexion and ulnar deviation Flexor carpi ulnaris release, lengthening and/or transfer to wrist extensors; dorsal carpal closing wedge osteotomy Thumb in palm contracture and syndactyly Z-plasty, syndactly release Finger defomity PIP arthrodesis Teratologic Hip Subluxation & Dislocation Introduction present in 68-80% of patients with arthrogryposis Treatment nonoperative observation alone observe alone while addressing other hand/foot deformities indications bilateral dislocations (controversial) unilateral dislocation in older child (controversial) Pavlik harness and rigid abduction brace are unlikely to succeed operative closed reduction indications rarely successful medial open reduction with possible femoral shortening done at ≥ 6 months of age indications unilateral teratologic dislocation may lead to worse function if it leads to a hip flexion contracture because flexion deformities worsen the patient's gait Knee Contractures Treatment operative soft tissue releases (especially hamstrings) indications flexion contracture >30 degrees best performed early (6-9 months of age) perform before hip reduction to assist in maintenance of reduction femoral angulation through guided growth (epiphysiodesis) indications useful in conjunction with osteotomies outcomes may not effectively correct chronic poor quadriceps function supracondylar femoral osteotomy indications may be needed to correct residual deformity at skeletal maturity Foot Conditions Clubfoot treatment nonoperative Ponseti casting indications useful in many patients operative soft tissue release indications first line of treatment in rigid clubfoot failed Ponseti casting in more flexible types talectomy vs. triple arthorodesis indications failed soft tissue releases triple arthrodesis in adolescence Vertical Talus treatment operative soft tissue releases indications first line of treatment talectomy indications if deformities recur despite soft tissue releases