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Results 1 - 10 of 24 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. PITX1 gene 
    ... the elbows and wrists, and other bone and muscle abnormalities. These genetic changes delete, insert, or rearrange genetic ... that normally turn off the PITX1 gene during upper limb development. As a ... limb structure, bones, muscles, and tendons in the arms and hands develop ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  4. 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
  5. 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
  6. 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
  7. GJC2 gene 
    ... limbs.Spastic paraplegia type 44 is characterized by muscle stiffness (spasticity), paralysis of the upper limbs (paraplegia), impaired speech (dysarthria), and mild intellectual disability. ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  8. 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
  9. 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
  10. ANO5 gene 
    ... is a group of related disorders characterized by muscle weakness and wasting (atrophy), particularly in the shoulders, hips, thighs, and upper arms.The ANO5 gene mutations identified in people with limb-girdle muscular dystrophy type 2L change single amino ...
    https://medlineplus.gov/genetics/gene/ano5 - Genetics
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