Schwartz-Jampel syndrome type 1Joe Segen2016-11-28T02:46:02+00:00
Schwartz-Jampel syndrome type 1
Definition A rare autosomal recessive disorder (OMIM:255800) characterised by permanent myotonia, and skeletal dysplasia with reduced stature, kyphoscoliosis, bowing of diaphyses and irregular epiphyses.
Molecular pathology Defects of HSPG2, which encodes perlecan, a multidomain proteoglycan that is a major component of basement membranes, where it is involved in stabilising other molecules, cause Schwartz-Jampel syndrome type 1.
Synonyms Aberfeld syndrome, blepharophimosis, myopathy, and dwarfism, chondrodystrophic myotonia, congenital blepharophimosis with generalized myopathy, myotonic myopathy—dwarfism—chondrodystrophy—and ocular and facial abnormalities, osteochondromuscular dystrophy, Schwartz syndrome, Schwartz-Jampel-Aberfeld syndrome