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Results 81 - 90 of 127 for Abnormality of limbs
  1. Nail-patella syndrome 
    ... particularly important during early embryonic development of the limbs, kidneys, and eyes. Mutations in the LMX1B gene ...
    https://medlineplus.gov/genetics/condition/nail-patella-syndrome - Genetics
  2. Osteoporosis-pseudoglioma syndrome 
    ... curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause ... retinal development, leading to the bone and eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome. LRP5 Osteoporosis-pseudoglioma ...
    https://medlineplus.gov/.../osteoporosis-pseudoglioma-syndrome - Genetics
  3. SADDAN 
    ... PubMed Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives. Am J Med Genet. 2002 Oct ...
    https://medlineplus.gov/genetics/condition/saddan - Genetics
  4. Melorheostosis 
    ... the affected body part. In some people, the limb may appear thickened or ... Scientists originally speculated that melorheostosis that occurs without ...
    https://medlineplus.gov/genetics/condition/melorheostosis - Genetics
  5. Spastic paraplegia type 49 
    ... and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two ... complex. The pure types involve only the lower limbs, whereas the complex types also involve the upper ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-49 - Genetics
  6. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 
    ... the ability to sense the position of their limbs or vibrations with their limbs. These movement and sensation problems affect the legs ... seen using magnetic resonance imaging (MRI). These characteristic abnormalities typically involve particular parts of the white matter ...
    https://medlineplus.gov/...al-cord-involvement-and-lactate-elevation - Genetics
  7. Lymphedema-distichiasis syndrome 
    ... syndrome develop puffiness or swelling (lymphedema) of the limbs, typically the legs and feet. Another characteristic of ... primary valve failure in veins of the lower limb. Circulation. 2007 Apr 10;115(14):1912-20. ...
    https://medlineplus.gov/.../lymphedema-distichiasis-syndrome - Genetics
  8. Familial partial lipodystrophy 
    ... The fat that cannot be stored in the limbs builds up around the face and neck, and ... a loss of fat from the hips and limbs is more easily recognized in women, and complications ...
    https://medlineplus.gov/.../condition/familial-partial-lipodystrophy - Genetics
  9. Familial thoracic aortic aneurysm and dissection 
    ... numbness or tingling (paresthesias) in one or more limbs, or paralysis.Familial TAAD may not be associated ... aorta). Some people with familial TAAD have heart abnormalities that are present from birth (congenital). Affected individuals ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics
  10. Nager syndrome 
    ... diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement. Prenat Diagn. 2008 Oct;28(10):964- ...
    https://medlineplus.gov/genetics/condition/nager-syndrome - Genetics
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