Aberfeld Syndrome (Schwartz-Jampel Syndrome; CongenitalBlepharophimosis Associated with Generalized Myopathy Syndrome; Ocular and Facial Abnormalities Syndro 313f54d me)
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.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Pascuzzi RM. Schwartz-Jampel syndrome with dominant inheritance. Muscle Nerve 1990; 13:1152-l163.
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