Cyprus facial neuromusculoskeletal syndrome


Cyprus facial neuromusculoskeletal syndrome: A rare inherited syndrome characterized by variable neurological, muscular and skeletal abnormalities as well as a characteristic face.


* Skeletal deformities * Facial anomalies * Neuromuscular abnormalities * Widely spaced eyes * Widow's peak


Routine studies include a CBC, sedimentation rate, urinalysis, chemistry panel including electrolytes, an ANA test, serum protein electrophoresis, febrile agglutinins, chest x-ray, and EKG. If muscular disease is strongly suspected, then a 24-hr collection for urine creatine and creatinine should be done, as well as serial muscle enzymes. Perhaps a Trichinella skin test or antibody titer will be helpful. An EMG and a nerve conduction velocity study may be helpful in both muscular disease and peripheral neuropathies. A muscle biopsy may be necessary to diagnose dermatomyositis, trichinosis, cysticercosis, and various collagen diseases. Urine for porphyrins and porphobilinogen should be done in difficult diagnostic cases also. Twenty-four-hr urine quantitative potassium, sodium, or calcium will be helpful in the electrolyte disorders, as the serum electrolytes do not always reflect the decrease in intracellular electrolytes. A spinal tap will help diagnose poliomyelitis, meningitis, and Guillain-Barré syndrome. It may be necessary to seek the help of a rheumatologist, a neurologist, or an infectious disease specialist. If chronic fibromyositis is suspected, a psychiatrist should be consulted. There is no convincing proof that this is an organic disease.