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Results 91 - 100 of 557 for Disorder of bone
  1. Homocystinuria 
    ... the eye, a higher risk of blood clotting disorders, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental ... a blood disorder called megaloblastic anemia, which occurs when a person ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics
  2. CHILD syndrome 
    ... legs during early development. Some children with this disorder have shortened bones in the fingers or toes, while others have shortened or missing limbs. The limb abnormalities typically occur on the same side of ... CHILD syndrome is a rare disorder; fewer than 100 people with this condition have ...
    https://medlineplus.gov/genetics/condition/child-syndrome - Genetics
  3. Crouzon syndrome 
    Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.Many features ...
    https://medlineplus.gov/genetics/condition/crouzon-syndrome - Genetics
  4. Pfeiffer syndrome 
    Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome ...
    https://medlineplus.gov/genetics/condition/pfeiffer-syndrome - Genetics
  5. Alpha-mannosidosis 
    ... The skeletal abnormalities that can occur in this disorder include reduced bone density (osteopenia), thickening of the bones at the ... spine (vertebrae), knock knees, and deterioration of the bones and ... to severe. The disorder may appear in infancy with rapid progression and ...
    https://medlineplus.gov/genetics/condition/alpha-mannosidosis - Genetics
  6. LPIN2 gene 
    ... on PubMed Hetrick R, Oliver M. Pediatric autoinflammatory bone disorders-a mini review with special focus on pathogenesis ...
    https://medlineplus.gov/genetics/gene/lpin2 - Genetics
  7. MMP14 gene 
    ... found to cause Winchester syndrome, a rare inherited bone disease that is characterized by a loss of bone ...
    https://medlineplus.gov/genetics/gene/mmp14 - Genetics
  8. MATN3 gene 
    ... 3 A-domain and implications for human genetic bone diseases. J Biol Chem. 2007 Nov 30;282(48): ...
    https://medlineplus.gov/genetics/gene/matn3 - Genetics
  9. MMP2 gene 
    ... osteolysis, nodulosis, and arthropathy (MONA), a rare inherited bone disease that is characterized by the loss of bone ...
    https://medlineplus.gov/genetics/gene/mmp2 - Genetics
  10. Weyers acrofacial dysostosis 
    Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a ...
    https://medlineplus.gov/.../condition/weyers-acrofacial-dysostosis - Genetics
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