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Results 71 - 80 of 127 for Abnormality of limbs
  1. Spastic paraplegia type 11 
    ... intellectual disability; exaggerated reflexes (hyperreflexia) of the lower ... however, abnormalities in muscle tone and difficulty walking usually become ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-11 - Genetics
  2. Acromicric dysplasia 
    ... a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.Newborns with ... active. These effects likely contribute to the physical abnormalities that occur in acromicric dysplasia, but the mechanisms ...
    https://medlineplus.gov/genetics/condition/acromicric-dysplasia - Genetics
  3. Collagen VI-related dystrophy 
    ... Testing Registry: Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy Genetic Testing Registry: Collagen 6- ...
    https://medlineplus.gov/.../condition/collagen-vi-related-myopathy - Genetics
  4. Peters plus syndrome 
    ... with Peters plus syndrome also have shortened upper limbs (rhizomelia) and shortened fingers and toes (brachydactyly).The ... Krause-van Schooneveld-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters' plus syndrome Peters'-plus syndrome ...
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
  5. Acrocallosal syndrome 
    ... patterning of structures such as the brain and limbs.Mutations in either the KIF7 or GLI3 gene ... The roles of these genes in brain and limb patterning may help explain why mutations lead to ...
    https://medlineplus.gov/genetics/condition/acrocallosal-syndrome - Genetics
  6. Mandibuloacral dysplasia 
    ... loss of fatty tissue from the torso and limbs, but it may build up around the neck ... of fatty tissue in the face, torso, and limbs.MADA usually begins in adulthood, although children can ...
    https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia - Genetics
  7. Duane-radial ray syndrome 
    ... the normal development of the eyes, heart, and limbs.Mutations in the SALL4 gene prevent cells from ...
    https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome - Genetics
  8. Microcephaly-capillary malformation syndrome 
    ... multiple capillary malformations, intractable seizures, and brain and limb anomalies. Am J Med Genet A. 2011 Feb; ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  9. Apert syndrome 
    ... AM, Hamel BC. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med ...
    https://medlineplus.gov/genetics/condition/apert-syndrome - Genetics
  10. Otopalatodigital syndrome type 1 
    ... may have mild abnormal curvature (bowing) of their limbs, and limited range of motion in some joints. ...
    https://medlineplus.gov/.../otopalatodigital-syndrome-type-1 - Genetics
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