Osteochondromuscular dystrophy

Introduction: Osteochondromuscular dystrophy

Description of Osteochondromuscular dystrophy

Osteochondromuscular dystrophy: 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.
Source: Diseases Database

Osteochondromuscular dystrophy: Related Topics

These medical condition or symptom topics may be relevant to medical information for Osteochondromuscular dystrophy:

• Dystrophy
• Stature
• Generalized
• Myotonia (35 causes)
• Major
• Joints
• Microstomia
• Muscle

Terms associated with Osteochondromuscular dystrophy:

Terms Similar to Osteochondromuscular dystrophy:

• Schwartz-Jampel-Aberfeld syndrome
• Myotonia chondrodystrophica

Source: Diseases Database

External links related to: Osteochondromuscular dystrophy

• OMIM - SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
• Schwartz-Jampel syndrome (Oscar Schwartz) (www.whonamedit.com)
• eMedicine - Schwartz-Jampel Syndrome : Article by Stephen Berman, MD, PhD
• Search Jablonski's Syndromes Database

Source: Diseases Database

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