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The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones. [4] Usually the upper limbs are not fully formed and sections of the "hands and arms may be missing". Short arm bones, fused fingers, and missing thumbs will often occur.
The left image shows the wall push test, right image shows attempted shoulder flexion. After the facial weakness, weakness usually develops in the muscles of the chest and those that span from the scapula to the thorax. Symptoms involving the shoulder, such as difficulty working with the arms overhead, are the initial complaint in 80% of cases.
The most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system: undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or chest pain radiating to the back, shoulder, or arm. Cold arms, hands, and feet can also be linked to MFS because of inadequate circulation.
By definition, all limb-girdle muscular dystrophies (LGMD) cause progressive proximal weakness, [3] meaning weakness of the muscles on or close to the torso that worsens over time. Explicitly, LGMD preferentially affects muscles of the hip girdle, thigh, shoulder girdle, and/or upper arm. [8] [6] The muscle weakness is generally symmetric. [11]
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
Holt–Oram syndrome (also called atrio-digital syndrome, atriodigital dysplasia, cardiac-limb syndrome, heart-hand syndrome type 1, HOS, ventriculo-radial syndrome) is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and often causes heart problems. [1]
The upper motor neuron syndrome signs are seen in conditions where motor areas in the brain and/or spinal cord are damaged or fail to develop normally. These include spinal cord injury, cerebral palsy, multiple sclerosis and acquired brain injury including stroke. The impact of impairment of muscles for an individual is problems with movement ...
Tetra-amelia syndrome has been reported in only a few families worldwide. According to a 2011 study by Bermejo-Sanchez, amelia – that is, the lacking of one or more limbs – occurs in roughly 1 out of every 71,000 pregnancies. [1]