Schwartz-Jampel syndrome , SJS (Abkürzung)

Schwartz-Jampel syndrome type 1, which is considered the classical form of the disorder, may become apparent during early to late infancy or childhood.

Schwartz-Jampel syndrome is thought to be inherited as an autosomal recessive trait.

Schwartz-Jampel syndrome type 2, a more rare form of the disorder, is typically recognized at birth (congenital).

Most researchers now believe that SJS type 2 is actually the same disorder as Stuve-Wiedemann syndrome and not a form of Schwartz-Jampel syndrome.

Some researchers believe that Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome (SJS) type II are the same disorder.