Schwartz–Jampel syndrome

Also known as: Chondrodystrophic myotonia

Myotonia with skeletal dysplasia and blepharophimosis.

Medical specialty: Neurology
Subspecialty: Neurology / Myopathies
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: HSPG2

Etiology & mechanism

Perlecan deficiency.

Gene(s) involved (1)

HSPG2

Symptoms & signs (5)

blepharophimosisjoint contracturesmyotoniapursed lipsshort stature

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.