Arthrogryposis multiplex congenita

General: Heterogeneous group of disorders of multiple proposed etiologies; often one manifestation of a complex of congenital anomalies; probable autosomal recessive 959c26j transmission; found in Eskimos; affects more males than females; characterized by decreased fetal joint mobility secondary to neuropathic disease, myopathic disease, or some other cause.

Ocular: Congenital bilateral cataract; associated with ophthalmoplegia, retinopathy, goniodysgenesis, and infantile glaucoma, as well as Duane retraction syndrome.

Clinical: Multiple articular rigidities; hypoplasia of adjacent muscle groups; soft tissue shortening; ducklike waddle; muscle atrophy.

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Drachman DB. The syndrome of arthrogryposis multiplex congenita. Birth Defects 1971; 7:90-97.

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Miller BA, Pollard ZF Duane's retraction syndrome and arthrogryposis multiplex congenita. Surv Ophthalmol 1994; 38:395-396.

Schrander-Stumpel CT, et al. Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. J Med Genet 1993; 30:78-80.