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Results 41 - 50 of 277 for Abnormality of limbs
  1. Ataxia with oculomotor apraxia 
    ... nearly all people with type 1 develop nerve abnormalities (neuropathy). Neuropathy impairs reflexes and leads to limb weakness and an inability to sense vibrations. Many ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  2. Spondyloenchondrodysplasia with immune dysregulation 
    ... individuals with SPENCDI include flattened spinal bones (platyspondyly), abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia), and areas of damage (lesions) on ...
    https://medlineplus.gov/...hondrodysplasia-with-immune-dysregulation - Genetics
  3. Capillary malformation-arteriovenous malformation syndrome 
    ... called Parkes Weber syndrome. In addition to vascular abnormalities, Parkes Weber syndrome usually involves overgrowth of one limb. CM-AVM and some cases of Parkes Weber ...
    https://medlineplus.gov/...ation-arteriovenous-malformation-syndrome - Genetics
  4. LORICRIN gene 
    ... loricrin keratoderma. This disorder is characterized by skin abnormalities including widespread dry, scaly skin (ichthyosis), especially on the limbs. The mutations that cause the variant form of ...
    https://medlineplus.gov/genetics/gene/loricrin - Genetics
  5. TUBB4A-related leukodystrophy 
    ... addition, individuals with H-ABC have other movement abnormalities, such as involuntary muscle contractions (dystonia), uncontrolled movements of the limbs (choreoathetosis), muscle stiffness (rigidity), and difficulty coordinating movements ( ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  6. Cocaine and Pregnancy (Organization of Teratology Information Specialists)  
    Pregnancy and Substance Use/Specifics ... Pregnancy and Substance Use ... Cocaine/Women ... Cocaine ... Organization of Teratology Information Specialists
    https://mothertobaby.org/fact-sheets/cocaine-pregnancy - External Health Links
  7. Complex Regional Pain Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Complex Regional Pain Syndrome/Learn More ... Complex Regional Pain Syndrome ... National Institute of Neurological Disorders and Stroke ... From the National Institutes ...
    https://www.ninds.nih.gov/.../complex-regional-pain-syndrome - External Health Links
  8. Adams-Oliver syndrome 
    ... present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  9. KCNJ2 gene 
    ... paralysis), changes in heart rhythm (arrhythmia), and physical abnormalities affecting the face, other parts of the head, and the limbs. Most of the mutations change a single protein ...
    https://medlineplus.gov/genetics/gene/kcnj2 - Genetics
  10. Andersen-Tawil syndrome 
    ... syncope), and even more rarely, sudden death.Physical abnormalities associated with Andersen-Tawil syndrome typically affect the face, other parts of the head, and the limbs. These features often include a very small lower ...
    https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome - Genetics
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