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Results 1 - 10 of 23 for Block vertebrae
  1. Campomelic dysplasia 
    ... upper respiratory tract. This abnormality, called laryngotracheomalacia, ... of the spine (scoliosis) and other spine abnormalities that compress the ...
    https://medlineplus.gov/genetics/condition/campomelic-dysplasia - Genetics
  2. 9q22.3 microdeletion 
    ... a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull. ... a sequence of at least 352,000 DNA building blocks (base pairs), also written as 352 kilobases (kb), ...
    https://medlineplus.gov/genetics/condition/9q223-microdeletion - Genetics
  3. Spondyloepiphyseal dysplasia with metatarsal shortening 
    ... The cartilage in their hips, knees, shoulders, and spine usually degenerates over time (osteoarthritis), which may impair ... also have abnormalities in the bones of the spine (vertebrae), including flattened vertebrae (platyspondyly), a reduction in ...
    https://medlineplus.gov/...seal-dysplasia-with-metatarsal-shortening - Genetics
  4. Multiminicore disease 
    ... this form, the muscles of the ribcage and spine become stiff. In addition, the muscles needed for ... classic form develop an abnormal curvature of the spine (scoliosis), which appears during childhood and steadily worsens ...
    https://medlineplus.gov/genetics/condition/multiminicore-disease - Genetics
  5. Acromicric dysplasia 
    ... delayed bone age), abnormally shaped bones of the spine (vertebrae), and constrained movement of joints. Affected individuals often ... that cause acromicric dysplasia change single protein building blocks in the fibrillin-1 protein. The mutations result ...
    https://medlineplus.gov/genetics/condition/acromicric-dysplasia - Genetics
  6. Shprintzen-Goldberg syndrome 
    ... an abnormal side-to-side curvature of the spine (scoliosis). People with Shprintzen-Goldberg syndrome can have ... certain proteins in the pathway, the SKI protein blocks TGF-β signaling. The SKI protein is found ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  7. Simpson-Golabi-Behmel syndrome 
    ... extra nipples. Skeletal abnormalities, including extra spinal bones (vertebrae), are also possible in affected females. Other females ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  8. Autosomal dominant hyper-IgE syndrome 
    ... joint movement (hyperextensibility), an abnormal curvature of the spine (scoliosis), reduced bone density (osteopenia), and a tendency ... of other genes. A shortage of functional STAT3 blocks the maturation of T cells (specifically a subset ...
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
  9. Anauxetic dysplasia 
    ... of the bones at the top of the spine (atlantoaxial subluxation) can also occur in this disorder, ... cell structures called ribosomes, which assemble protein building blocks (amino acids) into proteins.The RMRP gene mutations ...
    https://medlineplus.gov/genetics/condition/anauxetic-dysplasia - Genetics
  10. Miller syndrome 
    ... in other bones, such as the ribs or spine.Less commonly, affected individuals have abnormalities of the ... is involved in producing pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules ...
    https://medlineplus.gov/genetics/condition/miller-syndrome - Genetics
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