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Results 71 - 80 of 277 for Abnormality of limbs
  1. GLI3 gene 
    ... role of the GLI3 protein in brain and limb patterning may help explain why mutations lead to brain abnormalities, polydactyly, and the other features of acrocallosal syndrome. ...
    https://medlineplus.gov/genetics/gene/gli3 - Genetics
  2. Achondroplasia: About the Disease From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Dwarfism/Start Here ... Dwarfism ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and other information about ...
    https://rarediseases.info.nih.gov/diseases/8173/achondroplasia - External Health Links
  3. Sjögren-Larsson syndrome 
    ... severe itchiness (pruritus) is also common. These skin abnormalities are generally dispersed over the whole body, most severely affecting the nape of the neck, the torso, and the extremities. The skin of the face is usually not ...
    https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome - Genetics
  4. Alpha-N-acetylgalactosaminidase deficiency 
    ... mild cognitive impairment and hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). They may also experience a loss of sensation or muscle weakness in the extremities (peripheral neuropathy). Clusters of enlarged blood vessels that ...
    https://medlineplus.gov/...lpha-n-acetylgalactosaminidase-deficiency - Genetics
  5. RAB18 deficiency 
    ... arms and lead to paralysis of all four limbs (spastic quadriplegia). Eventually, breathing may be impaired. The brain abnormalities can contribute to vision problems (cortical visual impairment). ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
  6. PNPLA6 gene 
    ... abnormally fast (brisk) reflexes, reduced sensation in the extremities (peripheral neuropathy), intellectual disability or other cognitive problems, eye abnormalities, impaired vision, hair abnormalities, hypogonadotropic hypogonadism, and reduced ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  7. Campomelic dysplasia 
    ... inward- and upward-turning feet (clubfeet). These skeletal abnormalities begin developing before birth and can often be seen on ultrasound. When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia. ...
    https://medlineplus.gov/genetics/condition/campomelic-dysplasia - Genetics
  8. Spinocerebellar ataxia type 36 
    ... neurons), which can contribute to the tongue and limb muscle atrophy in affected individuals.Some people with SCA36 have abnormalities of the eye muscles, which can lead to ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-36 - Genetics
  9. Congenital fibrosis of the extraocular muscles 
    ... a decreased ability to feel sensations in the limbs (peripheral neuropathy), which can begin in childhood or adulthood.Brain abnormalities can also occur in people with CFEOM3. Some ...
    https://medlineplus.gov/...nital-fibrosis-of-the-extraocular-muscles - Genetics
  10. Prenatal care in your second trimester 
    ... to assess the baby's anatomy. The heart, kidneys, limbs, and other structures will be visualized. Ultrasound can detect fetal abnormalities or birth defects about half the time. It ...
    https://medlineplus.gov/ency/patientinstructions/000557.htm - Medical Encyclopedia
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