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Kyphoscoliosis describes an abnormal curvature of the spine in both the coronal and sagittal planes. It is a combination of kyphosis and scoliosis.This musculoskeletal disorder often leads to other issues in patients, such as under-ventilation of lungs, pulmonary hypertension, difficulty in performing day-to-day activities, and psychological issues emanating from anxiety about acceptance among ...
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McDonough syndrome, also known as Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect is a very rare multi-systemic genetic disorder which is characterized by facial dysmorphisms, psychomotor delays, intellectual disabilities, and congenital heart defects.
Kyphoscoliosis EDS (kEDS; formerly categorized as type 6) is associated with severe hypotonia at birth, delayed motor development, progressive scoliosis (present from birth), and scleral fragility. People may also have easy bruising, fragile arteries that are prone to rupture, unusually small corneas, and osteopenia (low bone density).
Kyphosis (from Greek κυφός (kyphos) 'hump') is an abnormally excessive convex curvature of the spine as it occurs in the thoracic and sacral regions. [1] [2] Abnormal inward concave lordotic curving of the cervical and lumbar regions of the spine is called lordosis.
A pre-operative image of a 22-year-old male with a very extreme case of Scheuermann's disease. Scheuermann's disease is a skeletal disorder. [3] It describes a condition where the vertebrae grow unevenly with respect to the sagittal plane; that is, the posterior angle is often greater than the anterior.
Coffin–Lowry syndrome is an X-linked disorder resulting from loss-of-function mutations in the RPS6KA3 gene, which encodes RSK2 (ribosomal S6 kinase 2).Multiple mutations have been identified in RPS6KA3 that can give rise to the disorder, including missense mutations, nonsense mutations, insertions and deletions.
Kniest dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. [1] The COL2A1 gene is responsible for producing type II collagen.The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision.