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Results 1 - 10 of 18 for Upper limb muscle hypoplasia
  1. Action myoclonus–renal failure syndrome 
    ... These myoclonic jerks typically occur in the torso; upper and lower limbs; and ... by abnormalities in the inner ear (sensorineural hearing loss). Severe ...
    https://medlineplus.gov/.../action-myoclonus-renal-failure-syndrome - Genetics
  2. Holt-Oram syndrome 
    ... Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) ... or both of the upper limbs. If both upper limbs are affected, the bone abnormalities can be the same or different on each ...
    https://medlineplus.gov/genetics/condition/holt-oram-syndrome - Genetics
  3. Tubular aggregate myopathy 
    ... other muscle disorders, but they are the primary muscle cell abnormality in tubular aggregate myopathy. Tubular aggregate myopathy is ...
    https://medlineplus.gov/.../condition/tubular-aggregate-myopathy - Genetics
  4. Spastic paraplegia type 11 
    ... nystagmus). The onset of symptoms varies greatly; however, abnormalities in muscle tone and difficulty walking usually become noticeable in ... decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. As the condition progresses, some people ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-11 - Genetics
  5. Poland syndrome 
    ... affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and ...
    https://medlineplus.gov/genetics/condition/poland-syndrome - Genetics
  6. Tetra-amelia syndrome 
    ... various abdominal organs can protrude (abdominal wall defect), abnormalities in the muscle (diaphragm) that separates the organs in the abdomen from those in the chest, and lack of an anal opening (imperforate anus). ... often have heart abnormalities, such as defects in the walls between the ...
    https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome - Genetics
  7. Dopa-responsive dystonia 
    ... a group of movement abnormalities called parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  8. Spastic paraplegia type 49 
    ... limbs, whereas the complex types also involve the upper limbs (to a lesser ... weak muscle tone (hypotonia) that starts in infancy. During childhood, ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-49 - Genetics
  9. Klippel-Feil syndrome 
    ... or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil ...
    https://medlineplus.gov/genetics/condition/klippel-feil-syndrome - Genetics
  10. CASK-related intellectual disability 
    ... between the nose and mouth (philtrum); a protruding upper jaw (maxilla); a short ... in the limbs. Movement problems such as involuntary tensing of various ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
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