Chondrodystrophic myotonia
Congenital myotonic chondrodystrophy
Schwartz-Jampel disease
A syndrome of short stature; generalized myotonia with contractures of major joints, microstomia, and muscle rigidity; ocular anomalies, mainly blepharophimosis; and characteristic facies marked by pinched or frozen smile puckered lips. Some degree of mental retardation occurs in about 25% of patients. The affected children usually appear normal at birth and the symptoms become recognizable at 1 to 3 years of age. Malignant hyperthermia is a potentially lethal hazard during anesthesia.
G71.13 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
The 2023 edition of ICD-10-CM G71.13 became effective on October 1, 2022.
This is the American ICD-10-CM version of G71.13 – other international versions of ICD-10 G71.13 may differ.