Schwartz-Jampel syndrome type 1

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Schwartz-Jampel syndrome type 12016-11-28T02:46:02+00:00

Schwartz-Jampel syndrome type 1

GENETICS, ORTHOPAEDICS

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

References http://www.uniprot.org/uniprot/P98160#section_comments

http://www.omim.org/entry/255800

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