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Illum syndrome

Illum syndrome Causes

The cause is not known, although several mechanisms have been suggested. This includes hyperthermia of the fetus, fetal vascular compromise, prenatal virus, septum of the uterus, decreased amniotic fluid, muscle and connective tissue developmental abnormalities. In general, the causes can be grouped into extrinsic and intrinsic factors.

Illum syndrome Definition

Illum syndrome, also known as arthrogryposis multiplex congenita whistling face, is a kind of arthrogryposis multiplex congenita, a rare congenital disorder that causes multiple joint contractures and is characterized by muscle weakness and fibrosis.

Illum syndrome Diagnosis

Until now, no prenatal diagnostic tools are available to test for the condition. Diagnosis is only used to eliminate other causes. This is done by undertaking muscle biopsies, and blood tests and general clinical findings rule out other disorders and provides evidence for AMC.

Illum syndrome Symptoms and Signs

There are several symptoms for this group of diseases. Some of the more common signs and symptoms are linked to the shoulder (internal rotation deformity), elbow (extension and pronation deformity), wrist (volar and ulnar deformity), hand (fingers in fixed flexion and thumb-in-palm deformity), hip (flexed, abducted and externally rotated, often dislocated), knee (flexion deformity) and foot (clubfoot deformity). Complications may include scoliosis, lung hypoplasia leading to respiratory problems, midfacial hemangioma, growth retardation, facial and jaw deformities, respiratory problems, and abdominal hernias. Cognition and speech are generally normal.

Illum syndrome Treatment

While there is no known cure, symptoms and deformities may still be alleviated with various methods due to multiple contractures and weakness. Physical therapy intervention including stretching (may include casting and splinting program of affected joints), mobility training, and strengthening, are undertaken to improve flexion and range of motion. Occupational therapy interventions can include training in ADL and fine motor skills as well as targeting psychosocial and emotional implications of a chronic condition.

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