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Results 1 - 10 of 19 for Absent vertebra
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. Craniofacial microsomia 
    ... ear (microtia or anotia), or a closed or absent ear canal; these ... the spine (vertebrae), abnormally shaped kidneys, and heart defects, may ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
  9. Melnick-Needles syndrome 
    ... short stature, have an abnormal curvature of the spine (scoliosis), partial ... or absent bones.Characteristic facial features may include bulging eyes ...
    https://medlineplus.gov/genetics/condition/melnick-needles-syndrome - Genetics
  10. Genitopatellar syndrome 
    ... foot called a clubfoot. Bone abnormalities of the spine, ribs, collarbone ... underdeveloped or absent tissue connecting the left and right halves of ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
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