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Results 1 - 10 of 26 for Absent vertebra
  1. Chromosome 8 
    ... typically have severe intellectual disability, a thin or absent corpus callosum, weak muscle tone (hypotonia), abnormal curvature of the spine (scoliosis), and minor facial abnormalities. Some individuals with ...
    https://medlineplus.gov/genetics/chromosome/8 - Genetics
  2. Spondylothoracic dysostosis 
    ... protein. When the MESP2 protein is nonfunctional or absent, somite segmentation does not occur properly, which results in malformation and fusion of the bones of the spine and ribs seen in spondylothoracic dysostosis. MESP2 This ...
    https://medlineplus.gov/.../condition/spondylothoracic-dysostosis - Genetics
  3. CHARGE syndrome 
    ... from normal intelligence to major learning disabilities with absent speech and poor communication.Less common features of CHARGE syndrome include kidney abnormalities; immune system problems; abnormal curvature of the spine (scoliosis or kyphosis); and limb abnormalities, such as ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  4. DLL3 gene 
    ... protein. When the DLL3 protein is nonfunctional or absent, the NOTCH1 protein is abnormally active and does not oscillate, so somite segmentation does not occur properly. This results in the malformation and fusion of the bones of the spine and ribs seen in spondylocostal dysostosis type 1. ...
    https://medlineplus.gov/genetics/gene/dll3 - Genetics
  5. X-linked myotubular myopathy 
    ... weakness in other muscles of the face, and absent reflexes (areflexia).In X-linked myotubular myopathy, muscle weakness often disrupts normal bone development and can lead to fragile bones, an abnormal curvature of the spine (scoliosis), and joint deformities (contractures) of the hips ...
    https://medlineplus.gov/.../condition/x-linked-myotubular-myopathy - Genetics
  6. Atelosteogenesis type 3 
    ... the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3 - Genetics
  7. Atelosteogenesis type 1 
    ... the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1 - Genetics
  8. Boomerang dysplasia 
    ... the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, ...
    https://medlineplus.gov/genetics/condition/boomerang-dysplasia - Genetics
  9. MESP2 gene 
    ... protein. When the MESP2 protein is nonfunctional or absent, the NOTCH1 ... of the spine and ribs seen in spondylothoracic dysostosis. More About ...
    https://medlineplus.gov/genetics/gene/mesp2 - Genetics
  10. Miller syndrome 
    ... arms and legs. The most common problem is absent fifth (pinky) fingers and ... or spine.Less commonly, affected individuals have abnormalities of the ...
    https://medlineplus.gov/genetics/condition/miller-syndrome - Genetics
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