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Results 11 - 20 of 46 for Neck muscle hypoplasia
  1. Danon disease 
    ... abnormalities). Affected individuals often have a specific conduction ... shoulders, neck, and upper thighs. Many individuals with Danon disease ...
    https://medlineplus.gov/genetics/condition/danon-disease - Genetics
  2. Rigid spine muscular dystrophy 
    ... weakness of the muscles of the torso and neck (axial muscles). Other characteristic features include spine stiffness and serious ... features of RSMD1, they each also involve distinctive abnormalities of the muscle fibers that can only be ...
    https://medlineplus.gov/.../condition/rigid-spine-muscular-dystrophy - Genetics
  3. Craniometaphyseal dysplasia 
    ... overgrowth) of bones in the skull (cranium) and abnormalities in a region at the end of long ... mineralization, which may also contribute to the bone abnormalities.A mutation in the GJA1 gene causes some ...
    https://medlineplus.gov/.../condition/craniometaphyseal-dysplasia - Genetics
  4. Myoclonic epilepsy myopathy sensory ataxia 
    ... muscles of the hips, thighs, upper arms, or neck, or muscles farther away from the center of the body ( ... depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 ...
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics
  5. COG5-congenital disorder of glycosylation 
    ... inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's ... condition during infancy. These individuals often have weak muscle tone ... and rotated backward, a short neck with a low hairline in the back, and ...
    https://medlineplus.gov/...cog5-congenital-disorder-of-glycosylation - Genetics
  6. Myotonic dystrophy 
    ... such as those of the lower legs, hands, neck, and face. Muscle weakness in type 2 primarily involves muscles close to the center of the body (proximal muscles), such as the those of the neck, shoulders, elbows, and hips. The two types of ...
    https://medlineplus.gov/genetics/condition/myotonic-dystrophy - Genetics
  7. Familial thoracic aortic aneurysm and dissection 
    ... to flow abnormally between the layers. These aortic abnormalities are potentially life-threatening because they can decrease ... rupture).The occurrence and timing of these aortic abnormalities vary, even within the same affected family. They ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics
  8. Miller syndrome 
    ... syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They ... split in the upper lip (cleft lip). These abnormalities frequently cause feeding problems in infants with Miller ...
    https://medlineplus.gov/genetics/condition/miller-syndrome - Genetics
  9. Noonan syndrome with multiple lentigines 
    ... with multiple lentigines include hearing loss caused by abnormalities in the inner ear (sensorineural deafness), mild intellectual ... of the neck. Affected males often have genital abnormalities, which can include undescended testes (cryptorchidism) and a ...
    https://medlineplus.gov/.../noonan-syndrome-with-multiple-lentigines - Genetics
  10. Down syndrome 
    ... children are born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, are ... condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation ...
    https://medlineplus.gov/genetics/condition/down-syndrome - Genetics
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