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Results 21 - 30 of 127 for Abnormality of limbs
  1. Capillary malformation-arteriovenous malformation syndrome 
    ... called Parkes Weber syndrome. In addition to vascular abnormalities, Parkes Weber syndrome usually involves overgrowth of one limb. CM-AVM and some cases of Parkes Weber ...
    https://medlineplus.gov/...ation-arteriovenous-malformation-syndrome - Genetics
  2. TUBB4A-related leukodystrophy 
    ... addition, individuals with H-ABC have other movement abnormalities, such as involuntary muscle contractions (dystonia), uncontrolled movements of the limbs (choreoathetosis), muscle stiffness (rigidity), and difficulty coordinating movements ( ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  3. Adams-Oliver syndrome 
    ... present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  4. Andersen-Tawil syndrome 
    ... syncope), and even more rarely, sudden death.Physical abnormalities associated with Andersen-Tawil syndrome typically affect the face, other parts of the head, and the limbs. These features often include a very small lower ...
    https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome - Genetics
  5. Spastic paraplegia type 15 
    ... hereditary spastic paraplegia because it involves all four limbs as well as additional features, including abnormalities of the brain. In addition to the muscles ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-15 - Genetics
  6. Poland syndrome 
    ... signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder. ...
    https://medlineplus.gov/genetics/condition/poland-syndrome - Genetics
  7. Hypophosphatasia 
    ... Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities similar to another childhood bone disorder called rickets. Affected infants are born with short limbs, an abnormally shaped chest, and soft skull bones. ...
    https://medlineplus.gov/genetics/condition/hypophosphatasia - Genetics
  8. Cranioectodermal dysplasia 
    ... the skeleton is also affected in this condition. Abnormalities in the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics
  9. Blepharocheilodontic syndrome 
    ... affected individuals have incompletely formed arms or legs (limb reduction defects) or a spinal cord abnormality known as spina bifida. BCD syndrome is a ...
    https://medlineplus.gov/.../condition/blepharocheilodontic-syndrome - Genetics
  10. Alpers-Huttenlocher syndrome 
    ... involuntary muscle twitches (myoclonus), uncontrollable movements of the limbs (choreoathetosis), or a pattern of movement abnormalities known as parkinsonism.Affected individuals may have other ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
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