<unk>  is diagnosed on the basis of characteristic facial features, skeletal features and myotonia. Blood tests may show elevated serum creatine kinase or aldolase. X-rays, muscle biopsy or electromyography (EMG) may be useful. Genetic testing for the HSPG2 gene may confirm diagnosis.
Schwartz–Jampel syndrome
Hagemoser–Weinstein–Bresnick syndrome
Kasabach–Merritt syndrome
Schwartz–Matsuo syndrome
Bare lymphocyte syndrome type II
Smith–Fineman–Myers syndrome
Aarskog–Scott syndrome
Pitt–Hopkins syndrome