Aberfeld Syndrome

Aberfeld Syndrome (Schwartz-Jampel Syndrome; Congenital

Blepharophimosis Associated with Generalized Myopathy Syndrome; Ocular

and Facial Abnormalities Syndrome) 6

General: Etiology not known; autosomal recessive inheritance, although there are reports of dominant inheritance; progressive disorder.

Ocular: Blepharophimosis; exotropia; myopia; congenital cataracts; microcornea.

Clinical: Myopathy; bone deformities; arachnodactyly; dwarfism; hypoplastic facial bones; hypertrichosis; kyphoscoliosis.

Aberfeld DC, et al. Myotonia dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). Brain 1965; 88:313.

Keating PD, Hepler RS. Blepharophimosis and acquired somato-facial dysmorphism associated with congenital cataracts. Arch Ophthalmol 1969; 82:1.

McKusick VA. Mendelian inheritance in man, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Pascuzzi RM. Schwartz-Jampel syndrome with dominant inheritance. Muscle Nerve 1990; 13:1152-1163.