Schwartz-Jampel syndrome

noun

A rare genetic disorder caused by a mutation in the perlecan gene, leading to osteochondrodysplasia associated with myotonia.

Similar
SJS
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Meanings

nounSchwartz-Jampel syndrome (uncountable)
  1. uncountableA rare genetic disorder caused by a mutation in the perlecan gene, leading to osteochondrodysplasia associated with myotonia.

    Synonyms: SJS

Synonyms & antonyms

nounA rare genetic disorder caused by a mutation in the perlecan gene, leading to osteochondrodysplasia associated with myotonia.

Similar
SJS
Cite this entry
APA

Schwartz-Jampel syndrome. (n.d.). In WatkinsX Dictionary. Retrieved November 5, 2026, from https://dictionary.watkinsx.com/word/Schwartz-Jampel%20syndrome

MLA

“Schwartz-Jampel syndrome.” WatkinsX Dictionary, https://dictionary.watkinsx.com/word/Schwartz-Jampel%20syndrome. Accessed November 5, 2026.

Chicago

WatkinsX Dictionary, s.v. “Schwartz-Jampel syndrome,” accessed November 5, 2026, https://dictionary.watkinsx.com/word/Schwartz-Jampel%20syndrome.

Source: Schwartz-Jampel syndrome on Wiktionary, CC BY-SA 4.0.