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Results 51 - 60 of 60 for Abnormal form of the vertebral bodies
  1. FLNB gene 
    ... that affects the development of bones throughout the body. These mutations change single amino acids in the filamin B protein or delete a small section of the protein sequence, resulting in an abnormal protein. This abnormal protein appears to have a ...
    https://medlineplus.gov/genetics/gene/flnb - Genetics
  2. Osteogenesis imperfecta 
    ... structure of type I collagen molecules, resulting in abnormal type I ... cause rare forms of osteogenesis imperfecta. Many of these genes provide ...
    https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta - Genetics
  3. Spondyloperipheral dysplasia 
    ... fingers and toes (brachydactyly). These parts of the body are not proportional to one another (disproportionate short stature) in people with this condition. Affected individuals also tend to have flattened bones of the spine (platyspondyly) and inward- and upward-turning feet (clubfoot). ...
    https://medlineplus.gov/.../condition/spondyloperipheral-dysplasia - Genetics
  4. COL11A2 gene 
    ... those of OSMED (described above) and to a form of Stickler syndrome classified as type III.Like the other mutations that cause OSMED, this mutation leads to defective type XI collagen. The abnormal collagen impairs the normal development of several tissues, ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  5. MATN3 gene 
    ... intricate lattice of proteins and other molecules that forms in the spaces ... bones of the spine, hips, and limbs, the process of osteogenesis starts ...
    https://medlineplus.gov/genetics/gene/matn3 - Genetics
  6. Atelosteogenesis type 1 
    ... that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1 - Genetics
  7. Atelosteogenesis type 3 
    ... that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3 - Genetics
  8. Boomerang dysplasia 
    ... that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped ...
    https://medlineplus.gov/genetics/condition/boomerang-dysplasia - Genetics
  9. COL11A1 gene 
    ... of the discs between the bones of the spine (vertebrae).Collagens begin as ... to form a triple-stranded procollagen molecule. Then the ropelike ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  10. Alpha-mannosidosis 
    ... severe neurological deterioration. Individuals with this early-onset form of alpha-mannosidosis often do not survive past ... die. Tissues and organs are damaged by the abnormal accumulation of oligosaccharides and the resulting cell death, ...
    https://medlineplus.gov/genetics/condition/alpha-mannosidosis - Genetics
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