User Posts: Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Collagen VI-Related Muscular Dystrophy
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Collagen VI-related muscular dystrophy is a group of rare genetic muscle diseases where the body makes collagen type VI in an abnormal way. Collagen VI is a ...

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Collagen VI-Related Muscle Disorder
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Collagen VI-related muscle disorder is a group of rare genetic diseases that weaken the muscles of the body and also affect the soft connective tissue around ...

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Collagen VI-Related Dystrophy
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Collagen VI-related dystrophy is a group of rare genetic diseases that damage the muscles and the supporting tissues around them. In this condition, the body ...

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Collagen 6-Related Myopathy
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Collagen 6-related myopathy (often written as collagen VI-related myopathy) is a rare inherited muscle disease. It happens when there is a change (mutation) in ...

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Bone Fragility Craniosynostosis-Proptosis-Hydrocephalus Syndrome
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Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome is an extremely rare genetic disease that mainly affects bones of the skull and the whole ...

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Cole-Carpenter Syndrome
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Cole-Carpenter syndrome is an extremely rare genetic bone disease. It affects less than a few dozen people in the world. In this condition, the bones are weak ...

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CRLF1-Related Cold-Induced Sweating Syndrome
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CRLF1-related cold-induced sweating syndrome, including Crisponi syndrome, is a very rare genetic disease that affects how the body controls temperature, ...

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Cold-Induced Sweating Syndrome 1 (CISS1)
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Cold-induced sweating syndrome 1 (CISS1) is a very rare genetic disease that affects how the body controls temperature and how the nerves and face develop. In ...

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Sohar-Crisponi Syndrome
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Sohar-Crisponi syndrome is a very rare genetic disease that mainly affects babies and children. It belongs to a family of problems called cold-induced sweating ...

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Crisponi Syndrome
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Crisponi syndrome is a very rare genetic disease. It starts in newborn babies. The baby has sudden strong muscle contractions, mainly in the face, neck, and ...

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Ciliary Neurotrophic Factor Receptor-Related Disorder
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Ciliary neurotrophic factor receptor-related disorder is another name for a very rare genetic disease called cold-induced sweating syndrome (CISS). It mainly ...

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Cold-Induced Sweating Syndrome (CISS)
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Cold-induced sweating syndrome (CISS) is a very rare genetic disease. It mainly affects how the body controls temperature, sweating, face muscles, and bones. ...

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Acetabular Avascular Necrosis
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Acetabular avascular necrosis means part of the socket of the hip joint (the acetabulum) loses its blood supply, and the bone tissue in that area slowly dies. ...

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Acetabular Sclerosis of the Hip Joint
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Acetabular sclerosis of the hip joint means the bone in the socket part of the hip (the acetabulum) becomes extra thick and hard just under the smooth ...

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Subchondral Sclerosis of the Hip Joint
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Subchondral sclerosis of the hip joint means that the bone just under the smooth joint cartilage has become thicker, harder, and denser than normal. This dense ...

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Aseptic Necrosis of the Hip Joint
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Aseptic necrosis of the hip joint means that a part of the head of the thigh bone (femoral head) dies because its blood supply becomes too low or stops, but ...

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Aseptic Necrosis of the Femoral Head
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Aseptic necrosis of the femoral head means that part of the ball of the hip joint (the femoral head) dies because the blood supply stops, but there is no ...

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Avascular Necrosis (AVN) of the Femoral Head
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Avascular necrosis (AVN) of the femoral head is a disease where part of the head of the thigh bone (femur) slowly dies because it does not get enough blood. ...

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Ischemic Necrosis of the Hip Joint
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Ischemic necrosis of the hip joint means that a part of the head of the thigh bone (femoral head) dies because it does not get enough blood. The femoral head ...

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Left Femoral Head Osteonecrosis
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Left femoral head osteonecrosis means that a small part of the ball of your left hip joint (the “femoral head”) has died because it did not get enough blood. ...

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