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Kyphosis
INFORMATION Kyphosis is the dorsal curvature of the spine. Physiologically, the thoracic and sacral segments of the spine are kyphotically bent. The normal angle of flexion of the thoracic segment is in the range of about 20-40 degrees. A bend of more than 50 degrees is considered pathological. Kyphosis most often affects the thoracic segment of the spine, however, it can also appear in the cervical or lumbar segments. Kyphosis can [...]
VACTERL association
INFORMATION The association VACTERL is a "syndromic" association of many common multisystem anomalies. VACTERL stands for vertebral, anal, cardiac, tracheal, esophageal, renal and limbic. It occurs in 1 in 10,000 to 1 in 40,000 births. Many patients have at least three of the above systemic associations. Vertebral anomalies predominate (comprising 60-80% of patients) and may include vertebral anastomosis, missing [...]
Whistling face syndrome
INFORMATION Freeman-Sheldon Syndrome or Whistling Face Syndrome is a rare genetic disorder that causes a small "whistling" mouth, a flat face similar to a mask, horse feet, joint contractures and muscle weakness. The syndrome is associated with Arthrogryposis and Equine Foot. Affected individuals have joint contractures that limit movement and function. These contractures lead to deformities of the hands, feet and [...]
Nail - patella syndrome
Nail-Nail Syndrome is a rare genetic disorder that often causes deformities of the patella, thigh, fingernails, pelvic elbows and ankles. The syndrome takes its name from the two most common symptoms: nail and patella deficits. Nonetheless, Nail-Articular Syndrome affects the entire body. Joint contractures are a common feature of the syndrome, and many people develop arthritis. [...]
Madelung deformity
INFORMATION Madelung's deformity is a deformity of the wrist, where the distal end of the radial bone does not develop properly, leads to subluxation (partial dislocation) of the wrist bone between the radial and ulnar bones. The distal end of the joint, between the radial and ulnar bones is dislocated, this leads to a bump from the head of the ulnar bone. Madelung's deformity is a Blount deformity in the wrist; it bends [...]
Developmental dysplasia of the hip joint
INFORMATION Developmental hip dysplasia (DDH) is a condition in which there is subluxation (the head of the femur maintains partial contact with the pelvis) or dislocation (no contact between the head of the femur and the pelvis) of the hip joint in a newborn or infant. Hip dysplasia in infants most often occurs unilaterally (bilaterally about 20%), with a frequency of 1:1000 live births, six times more often [...]
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