Definition

Cote Adampoulos Pantelakis syndrome is a disease that develops before birth causing multiple joint contractures and characterized by muscle weakness and fibrosis. It is a rare disorder affecting the jaw, spine, shoulders, elbows, wrists, fingers, hips, knees, ankles, feet and toes. These contractures are accompanied by muscle weakness, limiting movements further.

Diagnosis

Patients with Cote Adampoulos Pantelakis have deformities in the shoulder, elbow, wrist, hand, hip, knee and foot. It may also lead to Complications such as scoliosis, lung hypoplasia leading to respiratory problems, growth retardation, midfacial hemangioma, facial and jaw deformities, respiratory problems, and abdominal hernias.

Treatment

Even if there is no cure for this disease, patients' conditions are alleviated through a multitude of physical and occupational therapies tailored to fit the symptoms of the patient. In severe cases of deformities, orthopedic surgery should be performed to correct severely joints and limbs and symptoms like hernia and unilateral hip dislocation.

Symptoms

The real cause is still unknown though doctors believe that the disease may be caused by extrinsic and intrinsic factors. Though decreased fetal movements due to maternal or fetal abnormalities is thought to be the principal cause, factors such lack of space for movement in the uterus, and malformation of musculoskeletal/neuromuslcular, neurological and connective tissues may also trigger Cote Adamopoulos Pantelakis syndrome. It is not genetic.

Causes

Muscle biopsies, blood tests and general clinical findings provide evidence for the existence of the disease.