Schwartz-Jampel syndrome
A syndrome characterized by short stature, blepharophimosis (horizontal narrowing of the eye slits), joint limitation, and myotonia (prolonged muscle contractions with a delay in relaxation). Certain subtypes of SJS are now recognized. Type IA becomes apparent later in childhood and is less severe. Type IB is apparent immediately at birth and is more severe . Type II, like type IB, is apparent immediately at birth and is more severe. Features of type II are joint contractures, bone dysplasia, and small stature. Infants with type II have severe respiratory difficulties and feeding problems. Hypotonia (low tone) rather than stiffness is prominent. The syndrome is inherited in an autosomal recessive manner and is due to mutations in the gene encoding perlecan on chromosome 1p36.1. The syndrome is also known as chondrodystrophic myotonia. Named for the American ophthalmologist Oscar Schwartz and neuro-ophthalmologist Robert Steven Jampel who described the syndrome in 1962. (The syndrome was first described in 1961 by Pinto and de Sousa in a Portuguese medical journal.)
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